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Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC006486.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC074212.3, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADCK4, ADM5, AES, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP3D1, APBA3, APOC4, ARHGAP33, ARHGEF1, ARHGEF18, ARID3A, ARRDC2, ASF1B, ATP1A3, ATP4A, ATP5SL, ATP8B3, AXL, B3GNT3, B3GNT8, B9D2, BCAM, BCAT2, BCKDHA, BIRC8, BLVRB, BRD4, BSG, BTBD2, C19orf12, C19orf24, C19orf26, C19orf33, C19orf35, C19orf40, C19orf44, C19orf54, C19orf55, C19orf57, C19orf66, C19orf68, C19orf73, C19orf81, C3, C5AR1, CACNA1A, CACTIN, CALR3, CAMSAP3, CAPN12, CAPS, CARD8, CATSPERG, CC2D1A, CCDC105, CCDC124, CCDC155, CCDC61, CCDC9, CCDC94, CCDC97, CCL25, CD177, CD320, CD33, CD37, CD3EAP, CD97, CDC34, CDKN2D, CEACAM1, CEACAM16, CEACAM18, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM8, CELF5, CEP89, CHAF1A, CHERP, CIB3, CIC, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC4M, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, COPE, CPAMD8, CRB3, CRTC1, CTB-102L5.4, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2B6, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DAND5, DCAF15, DEDD2, DENND1C, DHDH, DKKL1, DLL3, DMKN, DMRTC2, DMWD, DNM2, DNMT1, DOCK6, DOT1L, DPF1, DPY19L3, DUS3L, EBI3, ECH1, EEF2, EHD2, EID2B, EIF3G, ELAVL1, ELSPBP1, EMC10, EML2, EMR1, EMR2, EMR3, ERCC1, ERCC2, ERVV-1, ERVV-2, ETFB, ETV2, EVI5L, EXOSC5, FAM129C, FAM187B, FAM71E2, FAM83E, FBN3, FCAR, FCGBP, FCGRT, FCHO1, FFAR1, FFAR2, FFAR3, FGF22, FPR1, FUT2, FUT3, FUT5, FUT6, FXYD3, FXYD5, GALP, GFY, GIPC1, GLTSCR1, GLTSCR2, GNA15, GP6, GPATCH1, GPR108, GPR32, GPR42, GPX4, GRAMD1A, GRIN3B, GRWD1, GSK3A, GTPBP3, GZMM, HAS1, HAUS8, HCN2, HDGFRP2, HIF3A, HKR1, HMHA1, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HRC, HSD17B14, HSH2D, HSPBP1, ICAM1, ICAM3, ICAM5, IFI30, IGFL2, IGFLR1, IGSF23, IL11, IL12RB1, IL4I1, ILF3, ILVBL, INSL3, ISYNA1, KANK2, KCNA7, KCNK6, KDM4B, KHSRP, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KLF1, KLHL26, KLK1, KLK12, KLK14, KLK2, KLK3, KLK4, KLK5, KLK7, KMT2B, KRI1, LAIR2, LDLR, LENG8, LENG9, LGALS14, LGALS16, LGI4, LILRA2, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LINGO3, LMNB2, LPAR2, LPHN1, LRG1, LRP3, LRRC4B, LRRC8E, LSR, LTBP4, LYPD5, MADCAM1, MAG, MAN2B1, MAP1S, MAP2K2, MAP3K10, MARCH2, MAST1, MAST3, MAU2, MBD3L1, MBOAT7, MED16, MEGF8, MOB3A, MPV17L2, MUC16, MVB12A, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NACC1, NANOS3, NAPSA, NCLN, NDUFA11, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NMRK2, NOSIP, NOTCH3, NOVA2, NPHS1, NR1H2, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, ODF3L2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, PAK4, PAPL, PCP2, PCSK4, PDE4A, PDE4C, PEG3, PEX11G, PGLS, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLK5, PNMAL1, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPM1N, PPP1R15A, PPP1R37, PPP5D1, PRAM1, PRKCG, PRKCSH, PRKD2, PRR12, PRRG2, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSMD8, PSPN, PTGER1, PTPRH, PTPRS, PVR, PVRL2, QPCTL, RAB8A, RANBP3, RCN3, RDH13, RDH8, REXO1, RFPL4A, RFPL4AL1, RFX2, RGL3, RHPN2, RLN3, RNF126, RPS16, RPS9, RRAS, RYR1, S1PR4, S1PR5, SAMD1, SBK2, SBK3, SBNO2, SCAF1, SCN1B, SDHAF1, SELV, SERTAD1, SH2D3A, SHANK1, SHC2, SHD, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC35E1, SLC39A3, SLC44A2, SMARCA4, SPHK2, SPTBN4, SRRM5, SSBP4, SSC5D, STXBP2, SUGP2, SULT2A1, SUPT5H, SUV420H2, SYNE4, SYT3, TARM1, TBC1D17, TDRD12, TGFB1, THAP8, THEG, TICAM1, TIMM13, TIMM50, TJP3, TLE6, TMC4, TMEM143, TMEM150B, TMEM221, TMEM259, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNT1, TPGS1, TRIP10, TSEN34, TSHZ3, TSKS, TTYH1, TUBB4A, TYK2, U2AF1L4, U2AF2, UBA2, UBE2M, UBXN6, UNC13A, UPF1, UPK1A, URI1, USE1, USF2, USHBP1, USP29, VN1R1, VSIG10L, VSTM1, WDR18, WDR62, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIF1B, ZBTB32, ZBTB45, ZFP28, ZFP82, ZFR2, ZGLP1, ZIM2, ZIM3, ZNF100, ZNF112, ZNF132, ZNF135, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF181, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF227, ZNF229, ZNF233, ZNF235, ZNF256, ZNF260, ZNF264, ZNF266, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF320, ZNF324, ZNF331, ZNF333, ZNF347, ZNF350, ZNF382, ZNF404, ZNF415, ZNF417, ZNF419, ZNF429, ZNF431, ZNF432, ZNF440, ZNF441, ZNF443, ZNF45, ZNF460, ZNF468, ZNF470, ZNF471, ZNF480, ZNF490, ZNF497, ZNF507, ZNF524, ZNF525, ZNF527, ZNF529, ZNF530, ZNF534, ZNF540, ZNF543, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF557, ZNF559, ZNF563, ZNF565, ZNF566, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF574, ZNF577, ZNF578, ZNF579, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF628, ZNF649, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF701, ZNF708, ZNF709, ZNF714, ZNF724P, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF749, ZNF765, ZNF77, ZNF772, ZNF773, ZNF780A, ZNF780B, ZNF788, ZNF790, ZNF792, ZNF793, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF845, ZNF850, ZNF878, ZNF880, ZNF91, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN5A, ZSCAN5B, ZSCAN5C, ZSCAN5D,

Genes at Omim

ABCA7, ACTN4, ADAMTS10, ADCK4, AMH, ANGPTL4, AP3D1, ATP1A3, B9D2, BCAT2, BCKDHA, BSG, C19orf12, C3, CACNA1A, CALR3, CC2D1A, CD320, CEACAM16, CLEC4M, CRTC1, CYP2A6, CYP2B6, DLL3, DNM2, DNMT1, DOCK6, EEF2, ERCC1, ERCC2, ETFB, FUT2, FUT3, FUT6, GP6, GPX4, GTPBP3, ICAM1, IL12RB1, INSL3, KANK2, KIR3DL1, KLF1, KLK1, KLK4, LDLR, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MEGF8, MYH14, MYO9B, NDUFA11, NLRP12, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PRKCG, PRKCSH, PRX, RYR1, SCN1B, SDHAF1, SIPA1L3, SIX5, SMARCA4, STXBP2, SYNE4, TGFB1, TICAM1, TLE6, TNNT1, TSEN34, TUBB4A, TYK2, WDR62,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADCK4 Nephrotic syndrome, type 9, 615573 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
B9D2 Meckel syndrome 10, 614175 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 ?Spastic paraplegia 43, autosomal recessive, 615043 (3)
Neurodegeneration with brain iron accumulation 4, 614298 (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CALR3 ?Cardiomyopathy, hypertrophic, 19, 613875 (3)
CC2D1A Mental retardation, autosomal recessive 3, 608443 (3)
CD320 Methylmalonic aciduria due to transcobalamin receptor defect, 613646 (3)
CEACAM16 Deafness, autosomal dominant 4B, 614614 (3)
CLEC4M SARS infection, protection against (2)
CRTC1 Mucoepidermoid salivary gland carcinoma (3)
CYP2A6 Coumarin resistance, 122700 (3)
{Lung cancer, resistance to}, 211980 (3)
{Nicotine addiction, protection from}, 188890 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNM2 Charcot-Marie-Tooth disease, axonal, type 2M, 606482 (3)
Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)
Lethal congenital contracture syndrome 5, 615368 (3)
Myopathy, centronuclear, 160150 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2 Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
FUT2 [Bombay phenotype] (3)
{Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
ICAM1 {Malaria, cerebral, susceptibility to}, 611162 (3)
IL12RB1 Immunodeficiency 30, 614891 (3)
INSL3 Cryptorchidism, 219050 (3)
KANK2 Palmoplantar keratoderma and woolly hair, 616099 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KLF1 Blood group--Lutheran inhibitor, 111150 (3)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KLK4 Amelogenesis imperfecta, type IIA1, 204700 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LMNB2 ?Epilepsy, progressive myoclonic, 9, 616540 (3)
{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAG Spastic paraplegia 75, autosomal recessive, 616680 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MYH14 ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
Deafness, autosomal dominant 4A, 600652 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, 252010 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 ?Myofibromatosis, infantile 2, 615293 (3)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NTF4 Glaucoma 1, open angle, 1O, 613100 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 3-methylglutaconic aciduria, type III, 258501 (3)
Optic atrophy 3 with cataract, 165300 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RYR1 Central core disease, 117000 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)
TLE6 Preimplantation embryonic lethality, 616814 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Dystonia 4, torsion, autosomal dominant, 128101 (3)
Leukodystrophy, hypomyelinating, 6, 612438 (3)
TYK2 Immunodeficiency 35, 611521 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)

Genes at Clinical Genomics Database

ACTN4, ADAMTS10, ADCK4, AMH, ATP1A3, B9D2, BCAM, BCKDHA, BSG, C3, CACNA1A, CALR3, CC2D1A, CD320, CEACAM16, CYP2A6, CYP2B6, CYP4F2, DLL3, DNM2, DNMT1, DOCK6, ERCC1, ERCC2, ETFB, FUT3, FUT6, GP6, GPX4, GTPBP3, IL12RB1, INSL3, KANK2, KLF1, KLK4, LDLR, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MEGF8, MYH14, NDUFA11, NLRP12, NLRP7, NOTCH3, NPHS1, NTF4, NUP62, OPA3, PIK3R2, PIP5K1C, PLEKHG2, PRKCG, PRKCSH, PRX, RYR1, SCN1B, SDHAF1, SIPA1L3, SIX5, SMARCA4, STXBP2, SYNE4, TGFB1, TICAM1, TLE6, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF480, ZNF565,
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
ATP1A3 Alternating hemiplegia of childhood 2
B9D2 Meckel syndrome 10
BCAM Lutheran, null
Blood group, Auberger system
Blood group, Lutheran system
BCKDHA Maple syrup urine disease, type Ia
BSG Blood group, OK
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
CACNA1A Migraine, familial hemiplegic 1
Episodic ataxia, type 2
CALR3 Cardiomyopathy, familial hypertrophic, 19
CC2D1A Mental retardation, autosomal recessive 3
CD320 Methylmalonic aciduria due to transcobalamin receptor defect
CEACAM16 Deafness, autosomal dominant 4B
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP4F2 Warfarin metabolism
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNM2 Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
Myopathy, centronuclear
Charcot-Marie-Tooth disease, axonal, type 2M
Charcot-Marie-Tooth disease, dominant intermediate B
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Neuropathy, hereditary sensory, type IE
DOCK6 Adams-Oliver syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
ETFB Glutaric aciduria II
Multiple acyl-CoA dehydrogenase deficiency
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
GP6 Bleeding disorder, platelet-type, 11
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
IL12RB1 Immunodeficiency 30
INSL3 Cryptorchidism
KANK2 Palmoplantar keratoderma and woolly hair
KLF1 Blood group, Lutheran inhibitor
Anemia, dyserythropoietic congenital, type IV
KLK4 Amelogenesis imperfecta, type IIA1
LDLR Hypercholesterolemia, familial
LMNB2 Epilepsy, progressive myoclonic, 9
Liopdystrophy, partial, acquired
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAG Spastic paraplegia, autosomal recessive 75
MAN2B1 Mannosidosis, alpha B, lysosomal
MAP2K2 Cardiofaciocutaneous syndrome
MEGF8 Carpenter syndrome 2
MYH14 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Deafness, autosomal dominant 4B
Deafness, autosomal dominant 4
NDUFA11 Mitochondrial complex I deficiency
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NPHS1 Nephrotic syndrome, type 1
NTF4 Glaucoma 1, open angle, O
NUP62 Striatonigral degeneration, infantile
OPA3 Optic atrophy 3, autosomal dominant
3-methylglutaconic aciduria, type III
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRX Charcot-Marie-Tooth disease, type 4F
Dejerine-Sottas disease
RYR1 Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
Minicore myopathy with external ophthalmoplegia
Multicore myopathy
Minicore myopathy
Central core disease
Malignant hyperthermia, susceptibility 1
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SMARCA4 Rhabdoid tumor predisposition syndrome 2
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TGFB1 Camurati-Engelmann disease
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TLE6 Preimplantation embryonic lethality
TNNT1 Nemaline myopathy 5
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant
TYK2 Immunodeficiency 35
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 4873
Number of Genes: 705

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs34281780,rs10577491
dbSNP
37003538 215.73 TTGA T PASS 0/1 21 None None None 0.34545 0.34540 None None None None None None None
View hp37_1_filt_10x 19 rs10553990,rs757617044,rs34032064,rs66867226
dbSNP
55044228 966.73 TTC T PASS 1/1 24 None None None 0.23673 None None None None None None None
View hp37_1_filt_10x 19 rs113629564,rs10555748
dbSNP
33444346 294.73 TTA T PASS 0/1 12 None None None None None None None None None None
View hp37_1_filt_10x 19 rs57236251,rs796291741
dbSNP
39957232 408.73 TGG T PASS 0/1 18 None None None 0.13718 0.13720 0.16912 None None None None None None None
View hp37_1_filt_10x 19 rs547185289,rs528660073
dbSNP
41095086 1596.73 TG... T PASS 0/1 22 None None None 0.31470 0.31470 None None None None None None None

C19orf33

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs139805446
dbSNP
38795546 733.73 TGAA T PASS 0/1 23 CODON_DELETION MODERATE 0.15395 0.15400 0.13221 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs146515706
dbSNP
1110975 900.73 TGA T PASS 0/1 45 None None None 0.07468 0.07468 0.03224 None None None None None None None
View hp37_1_filt_10x 19 rs11361316
dbSNP
50322619 474.14 TG T PASS 1/1 21 None None None 0.45188 0.45190 None None None None None None None

ZNF586

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs72530696,rs398079975
dbSNP
58301766 1167.73 TG T PASS 0/1 60 None None None 0.31250 0.31250 0.32163 None None None None None None None

ZNF211

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs34418076
dbSNP
58151338 772.73 TG T PASS 1/1 20 FRAME_SHIFT HIGH 0.20967 0.20970 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs10564276,rs771289834,rs397743582
dbSNP
37309181 477.74 TCTG T PASS 1/1 11 None None None None None None None None None None
View hp37_1_filt_10x 19 . 55317395 380.73 TCTC T PASS 0/1 20 None None None None None None None None None None

ZNF284

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs139900131,rs369411341
dbSNP
44589999 3938.73 TCTC T PASS 1/1 68 CODON_DELETION MODERATE 0.45088 0.45090 0.44731 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs34154108,rs752671633,rs780936278,rs3833236
dbSNP
51164996 376.74 TCA T PASS 1/1 10 None None None 0.74860 0.74860 None None None None None None None
View hp37_1_filt_10x 19 rs56796931,rs398033833
dbSNP
7944348 1464.73 TC T PASS 1/1 36 None None None 0.99940 0.99940 None None None None None None None
View hp37_1_filt_10x 19 rs3833251
dbSNP
11512968 146.73 TC T PASS 0/1 10 None None None 0.06749 0.06749 0.05372 None None None None None None None
View hp37_1_filt_10x 19 rs79915295,rs398079888
dbSNP
42872559 212.73 TC T PASS 0/1 14 None None None 0.07748 0.07748 0.05447 None None None None None None None
View hp37_1_filt_10x 19 rs67390379,rs764644807
dbSNP
36937029 678.73 TA... T PASS 0/1 17 None None None 0.21046 0.21050 None None None None None None None
View hp37_1_filt_10x 19 rs146276582
dbSNP
53087132 635.73 TAATA T PASS 0/1 25 None None None 0.05831 0.05831 None None None None None None None
View hp37_1_filt_10x 19 rs35850082,rs796977583
dbSNP
48345114 118.73 TA T PASS 0/1 12 None None None 0.28055 0.28060 None None None None None None None
View hp37_1_filt_10x 19 rs3214618
dbSNP
42882829 278.73 TA T PASS 0/1 18 None None None 0.31949 0.31950 0.28882 None None None None None None None
View hp37_1_filt_10x 19 rs11314755,rs869199182,rs398101231
dbSNP
44503541 442.73 TA T PASS 1/1 15 None None None 0.92732 0.92730 None None None None None None None

HSH2D

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs5827321,rs398079755,rs398034064
dbSNP
16268207 1177.73 TA T PASS 1/1 41 FRAME_SHIFT HIGH 1.00000 1.00000 None None None None None None None

ZNF880

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs34470614,rs398101268
dbSNP
52887145 419.73 TA T PASS 1/1 16 FRAME_SHIFT HIGH 0.35779 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs56713158,rs398033740
dbSNP
3833572 59.73 TA T PASS 0/1 15 None None None 0.88518 0.88520 None None None None None None None
View hp37_1_filt_10x 19 rs1631848
dbSNP
868551 367.77 T C PASS 1/1 15 None None None 0.29293 0.29290 0.38167 None None None None None None None
View hp37_1_filt_10x 19 rs55875034
dbSNP
58983558 201.77 T G PASS 0/1 13 None None None 0.13978 0.13980 0.14489 None None None None None None None
View hp37_1_filt_10x 19 rs7259841
dbSNP
58951123 152.77 T C PASS 0/1 24 None None None 0.53874 0.53870 0.41369 None None None None None None None

ZNF584

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs10423138
dbSNP
58928302 197.77 T C PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.50060 0.50060 0.42111 None None None None None None None

A1BG

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs893184
dbSNP
58864479 639.77 T C PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84844 0.84840 0.10849 0.91 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2547354
dbSNP
58601221 817.77 T C PASS 1/1 35 None None None 0.50939 0.50940 0.43103 None None None None None None None
View hp37_1_filt_10x 19 rs10411019
dbSNP
58516230 184.77 T C PASS 0/1 21 None None None 0.70248 0.70250 None None None None None None None
View hp37_1_filt_10x 19 rs1035522
dbSNP
58510932 148.77 T C PASS 0/1 14 None None None 0.65595 0.65600 4.58 None None None None None None None
View hp37_1_filt_10x 19 rs7248365
dbSNP
58510503 359.77 T C PASS 0/1 33 None None None 0.65615 0.65620 None None None None None None None

ZNF256

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs959231
dbSNP
58453342 1084.77 T C PASS 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.26677 0.26680 0.25496 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs12972704
dbSNP
58426883 226.84 T G PASS 1/1 13 None None None 0.70347 0.70350 None None None None None None None

ZNF417

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs17852300
dbSNP
58420167 1820.77 T C PASS 1/1 81 SYNONYMOUS_CODING LOW SILENT 0.24621 0.24620 0.19571 None None None None None None None
View hp37_1_filt_10x 19 rs10416584
dbSNP
58420162 1703.77 T C PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31470 0.31470 0.26527 1.00 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs10415951
dbSNP
58419874 1114.77 T C PASS 1/1 58 None None None 0.31729 0.31730 0.35302 None None None None None None None

ZNF814

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs10412929
dbSNP
58385954 171.77 T C PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.30611 0.30610 0.27048 None None None None None None None

ZNF587

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs77825740
dbSNP
58370727 447.77 T G PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28854 0.28850 1.00 0.00 None None None None None None None

ZNF530

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 . 58117922 41.77 T A PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.01 None None None None None None None
View hp37_1_filt_10x 19 rs2360543
dbSNP
58117223 340.78 T A PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74661 0.74660 0.20098 1.00 0.00 None None None None None None None

ZNF550

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs10410631
dbSNP
58058739 497.77 T C PASS 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.48742 0.48740 0.48970 None None None None None None None

ZNF549

Omim - GeneCards - NCBI
Options Individual Chr
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs12461014
dbSNP
58038964 391.77 T A PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98962 0.98960 0.01991 0.38 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2074068
dbSNP
58016474 737.77 T C PASS 0/1 86 None None None None None None None None None None
View hp37_1_filt_10x 19 rs6510085
dbSNP
58002819 760.77 T A PASS 1/1 34 None None None 0.69489 0.69490 0.33923 None None None None None None None
View hp37_1_filt_10x 19 rs11672136
dbSNP
58001512 149.77 T A PASS 0/1 19 None None None 0.43710 0.43710 0.32804 None None None None None None None
View hp37_1_filt_10x 19 rs7257644
dbSNP
57985889 339.77 T C PASS 0/1 28 None None None 0.26358 0.26360 None None None None None None None

ZNF772

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs2074059
dbSNP
57985460 631.77 T A PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00280 0.67650 0.37160 0.81 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs10407734
dbSNP
57984045 354.77 T A PASS 1/1 18 None None None 0.67652 0.67650 None None None None None None None
View hp37_1_filt_10x 19 rs12985337
dbSNP
57982983 307.77 T C PASS 0/1 43 None None None 0.26338 0.26340 None None None None None None None

ZNF749

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs7246856
dbSNP
57956828 571.77 T G PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70727 0.70730 0.36175 1.00 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs862703
dbSNP
57865082 466.77 T C PASS 0/1 41 None None None 0.75579 0.75580 0.32670 None None None None None None None

ZNF543

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs1968090
dbSNP
57839567 607.77 T A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68171 0.68170 0.25350 1.00 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs7250511
dbSNP
57703369 179.77 T C PASS 0/1 38 None None None 0.51218 0.51220 None None None None None None None
View hp37_1_filt_10x 19 rs8108591
dbSNP
57665750 373.77 T C PASS 0/1 35 None None None 0.42292 0.42290 0.48670 None None None None None None None
View hp37_1_filt_10x 19 rs10425596
dbSNP
55901099 431.77 T C PASS 0/1 33 None None None 0.18271 0.18270 None None None None None None None

FAM71E2

Omim - GeneCards - NCBI
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RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs12976922
dbSNP
55870351 967.77 T C PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87560 0.87560 0.13688 0.10 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs11084395
dbSNP
55856083 298.78 T C PASS 1/1 11 None None None 0.51897 0.51900 0.42877 None None None None None None None
View hp37_1_filt_10x 19 rs10412726
dbSNP
55832427 193.77 T G PASS 0/1 20 None None None 0.43710 0.43710 0.47323 None None None None None None None

TMEM150B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs7246479
dbSNP
55824332 176.77 T G PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58566 0.58570 0.35375 1.00 0.01 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs62126349
dbSNP
55777143 215.84 T C PASS 1/1 10 None None None 0.56430 0.56430 None None None None None None None
View hp37_1_filt_10x 19 rs3803905
dbSNP
55699575 245.77 T C PASS 0/1 23 None None None 0.48502 0.48500 0.42334 None None None None None None None

PTPRH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs890870
dbSNP
55699454 656.77 T C PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2288419
dbSNP
55693244 151.77 T C PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40136 0.40140 0.28087 0.85 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs28377509
dbSNP
55670825 754.77 T C PASS 1/1 31 None None None 0.46925 0.46920 0.33108 None None None None None None None
View hp37_1_filt_10x 19 rs11671293
dbSNP
55668805 553.77 T C PASS 1/1 25 None None None 0.47005 0.47000 None None None None None None None
View hp37_1_filt_10x 19 rs9636153
dbSNP
55660537 603.77 T C PASS 1/1 28 None None None 0.81010 0.81010 None None None None None None None

GP6

Omim - GeneCards - NCBI
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs892090
dbSNP
55539072 681.77 T G PASS 1/1 29 SYNONYMOUS_CODING LOW SILENT 0.84265 0.84270 0.18208 None None None None None None None
View hp37_1_filt_10x 19 rs1654425
dbSNP
55538980 379.77 T C PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.90715 0.90710 0.11990 None None None None None None None
View hp37_1_filt_10x 19 rs1671152
dbSNP
55526345 840.77 T G PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82308 0.82310 0.20234 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs1654412
dbSNP
55525596 575.77 T C PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71665 0.71670 0.26586 0.00 0.29 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs1043678
dbSNP
55512316 348.77 T G PASS 0/1 39 None None None 0.32688 0.32690 0.37498 None None None None None None None
View hp37_1_filt_10x 19 rs775884
dbSNP
55451890 333.77 T C PASS 0/1 26 None None None 0.35523 0.35520 None None None None None None None
View hp37_1_filt_10x 19 rs269957
dbSNP
55445174 94.77 T C PASS 0/1 22 None None None 0.16474 0.16470 None None None None None None None

NLRP7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs269950
dbSNP
55441902 214.77 T C PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.59006 0.59010 0.45571 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs3816051
dbSNP
55385604 818.77 T C PASS 1/1 29 None None None 0.42672 0.42670 None None None None None None None
View hp37_1_filt_10x 19 . 55377915 255.77 T C PASS 0/1 44 None None None None None None None None None None

KIR3DL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 . 55377871 207.77 T C PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View hp37_1_filt_10x 19 rs2915987
dbSNP
55377340 380.77 T C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs2915986
dbSNP
55377307 226.77 T A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 . 55377302 215.77 T C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.01 None None None None None None None
View hp37_1_filt_10x 19 rs779666933
dbSNP
55377279 343.77 T C PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View hp37_1_filt_10x 19 rs796466301
dbSNP
55377265 311.77 T C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs371490654
dbSNP
55377255 344.77 T C PASS 0/1 58 None None None None None None None None None None
View hp37_1_filt_10x 19 rs796734062
dbSNP
55377249 392.77 T C PASS 0/1 59 None None None None None None None None None None
View hp37_1_filt_10x 19 rs199889703
dbSNP
55367451 63.77 T C PASS 0/1 11 None None None 0.06929 0.06929 None None None None None None None
View hp37_1_filt_10x 19 rs111640694
dbSNP
55359517 537.77 T C PASS 0/1 139 None None None 0.15 None None None None None None None

KIR2DS4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs72489166
dbSNP
55358658 384.77 T C PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs111922136
dbSNP
55344287 265.77 T C PASS 0/1 35 None None None None None None None None None None

KIR2DS4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs1130476
dbSNP
55344239 424.77 T G PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs377754555
dbSNP
55344186 821.73 T TA PASS 0/1 38 None None None None None None None None None None
View hp37_1_filt_10x 19 rs574407296,rs199634785
dbSNP
55342156 672.73 T TGTCA PASS 0/1 24 None None None None None None None None None None
View hp37_1_filt_10x 19 rs77482295
dbSNP
55342134 253.77 T C PASS 0/1 25 None None None None None None None None None None
View hp37_1_filt_10x 19 . 55342090 92.77 T G PASS 0/1 18 None None None None None None None None None None

KIR3DL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs200821495
dbSNP
55341674 64.77 T A PASS 0/1 47 None None None 0.00140 0.15 0.00 None None None None None None None
View hp37_1_filt_10x 19 . 55341672 51.77 T C PASS 0/1 47 None None None 0.59 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs1049271
dbSNP
55341661 76.77 T A PASS 0/1 43 None None None 0.00180 0.00180 None None None None None None None

KIR2DL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 19 rs649216
dbSNP
55324635 450.77 T C PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.59066 0.59070 None None None None None None None