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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

Export to: CSV

MZF1

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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 rs4756
dbSNP
59074653 91.77 T C PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37340 0.37340 0.34815 0.60 0.00 None None None None None None None

UBE2M

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 rs2305119
dbSNP
59067623 102.77 C T PASS 0/1 14 None None None 0.36721 0.36720 0.34453 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 rs3816329
dbSNP
59058693 388.77 G A PASS 0/1 38 None None None 0.18131 0.18130 0.19468 None None None None None None None

ZBTB45

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 rs11545185
dbSNP
59028585 55.77 G A PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.15635 0.15630 0.15128 None None None None None None None
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 rs2278497
dbSNP
59010819 189.77 G T PASS 0/1 19 None None None 0.37580 0.37580 0.42003 None None None None None None None
View hp37_1_filt_10x 19 rs4801274
dbSNP
59010593 310.78 A G PASS 1/1 14 None None None 0.85244 0.85240 0.10603 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

ZNF324

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 rs10418774
dbSNP
58982384 967.77 A G PASS 1/1 37 SYNONYMOUS_CODING LOW SILENT 0.99960 0.99960 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 rs12972898
dbSNP
58956888 302.77 A G PASS 0/1 23 None None None 0.13658 0.13660 0.16516 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
View hp37_1_filt_10x 19 rs45617039
dbSNP
58951096 317.77 G A PASS 0/1 36 None None None 0.14577 0.14580 0.15383 None None None None None None None

ZNF132

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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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 rs1122955
dbSNP
58946203 204.77 C T PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14617 0.14620 0.17207 0.66 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs1465789
dbSNP
58946056 432.77 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50060 0.50060 0.42434 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs9941466
dbSNP
58945962 1054.77 C T PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.95567 0.95570 0.03937 None None None None None None None
View hp37_1_filt_10x 19 rs3764529
dbSNP
58945089 123.77 A G PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.14976 0.14980 0.17454 None None None None None None None
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 rs34230465
dbSNP
58943576 321.77 C G PASS 0/1 33 None None None 0.14617 0.14620 None None None None None None None

ZNF584

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 rs3764534
dbSNP
58929136 68.77 G A PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT 0.50060 0.50060 0.42150 None None None None None None None
View hp37_1_filt_10x 19 rs3764535
dbSNP
58929052 179.77 G A PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.44689 0.44690 0.48324 None None None None None None None
View hp37_1_filt_10x 19 rs11668789
dbSNP
58928309 194.77 C T PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15016 0.15020 0.17715 0.27 0.00 None None None None None None None
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
View hp37_1_filt_10x 19 rs11668757
dbSNP
58928299 191.77 A T PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.12919 0.12920 0.15824 None None None None None None None
View hp37_1_filt_10x 19 rs12986387
dbSNP
58927215 525.77 C T PASS 0/1 54 None None None 0.15016 0.15020 0.17876 0.02 0.00 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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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 rs34511020
dbSNP
58921296 190.77 A G PASS 0/1 27 None None None 0.15176 0.15180 0.17769 None None None None None None None
View hp37_1_filt_10x 19 rs11878198
dbSNP
58920302 760.77 A G PASS 0/1 81 START_GAINED LOW 0.15196 0.15200 None None None None None None None

AC012313.1

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 rs13343526
dbSNP
58908150 286.78 C G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85503 0.85500 1.00 0.00 None None None None None None None

ZNF837

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 rs7255596
dbSNP
58879976 349.77 C T PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88159 0.88160 0.06634 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs7255489
dbSNP
58879965 427.77 A G PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.88159 0.88160 None None None None None None None
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 rs6146577,rs371567953
dbSNP
58869515 2185.73 GT... G PASS 1/1 28 None None None 0.35104 0.35100 None None None None None None None

ZNF497

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 rs12609654
dbSNP
58868480 1027.77 G T PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38279 0.38280 0.47001 0.21 0.31 None None None None None None None

A1BG

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 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
RsId
Pos
Qual
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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 rs1265957
dbSNP
58858676 363.78 A G PASS 1/1 17 None None None 0.92252 0.92250 0.03287 None None None None None None None
View hp37_1_filt_10x 19 rs11345647,rs796832423
dbSNP
58858614 347.74 AG A PASS 1/1 10 None None None 1.00000 1.00000 None None None None None None None
View hp37_1_filt_10x 19 rs3214663,rs398035147
dbSNP
58858231 528.73 GC G PASS 1/1 13 None None None 0.80431 0.80430 None None None None None None None
View hp37_1_filt_10x 19 rs157377
dbSNP
58697290 381.77 C G PASS 1/1 15 None None None 0.80371 0.80370 None None None None None None None
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

ZSCAN18

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 rs2258557
dbSNP
58596449 218.77 C T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16334 0.16330 0.13712 0.60 0.01 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 rs11669919
dbSNP
58580394 2317.77 G A PASS 1/1 95 None None None 0.36661 0.36660 None None None None None None None
View hp37_1_filt_10x 19 rs117509647
dbSNP
58580355 1011.77 G A PASS 0/1 94 None None None 0.01318 0.01318 None None None None None None None
View hp37_1_filt_10x 19 rs1057402
dbSNP
58580277 1884.77 C T PASS 1/1 65 None None None 0.63019 0.63020 None None None None None None None
View hp37_1_filt_10x 19 rs2229379
dbSNP
58579923 711.77 A G PASS 1/1 30 None None None 0.36362 0.36360 None None None None None None None

ZNF135

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 rs2229375
dbSNP
58578578 960.77 C T PASS 1/1 39 SYNONYMOUS_CODING LOW SILENT 0.36681 0.36680 0.38036 None None None None None None None
View hp37_1_filt_10x 19 rs541839711
dbSNP
58578561 429.77 A G PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00200 0.00200 0.05 0.11 None None None None None None None
View hp37_1_filt_10x 19 rs1469087
dbSNP
58572979 835.77 G A PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78255 0.78250 0.11910 1.00 0.00 None None None None None None None

ZSCAN1

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 rs159870
dbSNP
58549366 547.77 C G PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.64237 0.64240 0.30524 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 rs4801541
dbSNP
58521224 173.77 G C PASS 0/1 24 None None None 0.39697 0.39700 None None None None None None None
View hp37_1_filt_10x 19 rs56065611
dbSNP
58520480 79.77 A G PASS 0/1 12 None None None 0.39537 0.39540 None None None None None None None
View hp37_1_filt_10x 19 rs10853901
dbSNP
58518891 382.77 A G PASS 0/1 28 None None None 0.41514 0.41510 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
View hp37_1_filt_10x 19 rs3088169
dbSNP
58509356 114.77 G C PASS 0/1 19 None None None 0.67951 0.67950 None None None None None None None
View hp37_1_filt_10x 19 rs257676
dbSNP
58485439 364.77 C T PASS 1/1 14 None None None 0.72284 0.72280 0.26749 None None None None None None None

ZNF256

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 rs257652
dbSNP
58455381 1246.77 C T PASS 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.99261 0.99260 0.00046 None None None None None None None
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
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 rs62126278
dbSNP
58446618 426.77 G A PASS 1/1 18 None None None 0.24780 0.24780 None None None None None None None
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
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 rs3826671
dbSNP
58421128 1623.77 C T PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32867 0.32870 0.33657 0.25 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs71354064,rs3745133
dbSNP
58420699 1729.77 C A PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.33750 0.00 0.86 None None None None None None None
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
View hp37_1_filt_10x 19 rs17845779
dbSNP
58420152 1645.77 C A PASS 1/1 76 SYNONYMOUS_CODING LOW SILENT 0.27935 0.27940 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 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
View hp37_1_filt_10x 19 rs10414704
dbSNP
58419841 1005.77 G T PASS 1/1 39 None None None 0.31150 0.31150 None None None None None None None
View hp37_1_filt_10x 19 rs73068597
dbSNP
58419180 1083.77 G A PASS 1/1 44 None None None 0.24661 0.24660 None None None None None None None
View hp37_1_filt_10x 19 rs34513698
dbSNP
58418818 890.77 G A PASS 1/1 34 None None None 0.24681 0.24680 None None None None None None None
View hp37_1_filt_10x 19 rs111616082
dbSNP
58417899 489.77 G A PASS 1/1 16 None None None 0.24701 0.24700 None None None None None None None
View hp37_1_filt_10x 19 rs76490734,rs12610589
dbSNP
58386651 38.77 C A PASS 0/1 16 None None None 0.30551 0.30550 None None None None None None None

ZNF814

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 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
View hp37_1_filt_10x 19 rs145250945
dbSNP
58385748 32.77 G A PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 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 rs1061996
dbSNP
58376484 183.77 A C PASS 0/1 21 None None None 0.37480 0.37480 None None None None None None None
View hp37_1_filt_10x 19 rs10402633
dbSNP
58376008 78.77 C T PASS 0/1 21 None None None 0.40515 0.40520 None None None None None None None
View hp37_1_filt_10x 19 rs559734861
dbSNP
58374359 231.77 C G PASS 0/1 34 None None None 0.00779 0.00779 None None None None None None None
View hp37_1_filt_10x 19 rs7253130
dbSNP
58374130 729.77 C T PASS 0/1 70 None None None 0.28435 0.28430 None None None None None None None
View hp37_1_filt_10x 19 rs12609890
dbSNP
58372610 101.77 C G PASS 0/1 11 None None None 0.15336 0.15340 None None None None None None None

ZNF587

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 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
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 rs28577146
dbSNP
58361334 55.77 G A PASS 0/1 12 None None None 0.45387 0.45390 None None None None None None None
View hp37_1_filt_10x 19 rs28374851
dbSNP
58361328 54.77 G C PASS 0/1 14 None None None 0.41514 0.41510 0.36312 None None None None None None None

ZNF587B

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 rs12981244
dbSNP
58352522 626.77 G A PASS 0/1 84 SYNONYMOUS_CODING LOW SILENT 0.57288 0.57290 3.98 None None None None None None None
View hp37_1_filt_10x 19 rs2562052
dbSNP
58352289 162.84 G A PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91893 0.91890 0.13 0.00 None None None None None None None

ZNF552

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 rs2303817
dbSNP
58326001 656.77 A G PASS 0/1 58 None None None 0.57568 0.57570 0.44547 None None None None None None None

ZNF586

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 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
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 rs2158013
dbSNP
58291228 639.77 A G PASS 0/1 64 None None None 0.68231 0.68230 None None None None None None None
View hp37_1_filt_10x 19 rs2285615
dbSNP
58288169 290.77 C T PASS 0/1 27 None None None 0.48582 0.48580 None None None None None None None
View hp37_1_filt_10x 19 rs11290757
dbSNP
58267644 312.73 CT C PASS 0/1 21 None None None 0.67272 0.67270 None None None None None None None
View hp37_1_filt_10x 19 rs12609667
dbSNP
58266192 87.77 C T PASS 0/1 13 None None None 0.29852 0.29850 None None None None None None None
View hp37_1_filt_10x 19 rs2074081
dbSNP
58258589 74.77 G A PASS 0/1 13 None None None 0.17292 0.17290 None None None None None None None
View hp37_1_filt_10x 19 rs60751243
dbSNP
58258466 316.77 G T PASS 0/1 27 None None None 0.28235 0.28230 0.26555 None None None None None None None
View hp37_1_filt_10x 19 rs2074080
dbSNP
58258120 152.77 G A PASS 0/1 18 None None None 0.45347 0.45350 None None None None None None None
View hp37_1_filt_10x 19 rs2239986
dbSNP
58231807 239.77 A G PASS 0/1 19 None None None 0.68451 0.68450 0.34161 None None None None None None None

ZNF154

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 rs2074078
dbSNP
58213952 713.77 C A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16693 0.16690 0.10671 0.34 0.06 None None None None None None None

ZNF211

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 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
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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 rs112876388,rs577601973
dbSNP
58144527 599.73 G GC PASS 0/1 36 MOTIF[MA0079.2:SP1] LOW 0.08746 None None None None None None None
View hp37_1_filt_10x 19 rs10715037,rs778007207,rs398035110
dbSNP
58118715 218.74 CT C PASS 0/1 31 None None None None None None None None None None

ZNF530

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 . 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
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 rs7250705
dbSNP
58067770 139.77 C G PASS 0/1 13 None None None 0.17332 0.17330 0.12018 None None None None None None None

ZNF550

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 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
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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
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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 rs2066936
dbSNP
58018848 222.77 A G PASS 0/1 21 None None None 0.43790 0.43790 None None None None None None None

ZNF773

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 rs769130136
dbSNP
58017820 224.73 CTG C PASS 0/1 18 FRAME_SHIFT HIGH None None None None None None None