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Genes:
AARS, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, AC004381.6, AC010536.1, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM5, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ALG1, ANKRD11, ANKS3, APOBR, ARMC5, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATXN1L, ATXN2L, AXIN1, BAIAP3, BANP, BBS2, BCAR1, BCMO1, BFAR, BRD7, BRICD5, C16orf11, C16orf3, C16orf46, C16orf59, C16orf62, C16orf71, C16orf89, C16orf91, C16orf95, CA5A, CACNA1H, CAPN15, CAPNS2, CARHSP1, CCDC102A, CCDC135, CCDC154, CCDC64B, CCDC78, CCDC79, CCL22, CCP110, CD19, CDH11, CDH13, CDH3, CDH5, CDIP1, CDT1, CDYL2, CENPBD1, CENPN, CES1, CES2, CES3, CES5A, CETP, CFDP1, CHD9, CHST5, CHTF18, CIITA, CLDN6, CLEC16A, CLEC18A, CLEC18B, CLEC3A, CLUAP1, CMTM1, CMTM2, CMTM4, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COQ7, CORO7-PAM16, COX4I1, CPNE2, CPPED1, CRISPLD2, CTD-2144E22.5, CTD-3088G3.8, CTRB2, CTU2, CYBA, DCTPP1, DDX19B, DDX28, DECR2, DEF8, DHODH, DHX38, DNAAF1, DNAH3, DNAJA3, DNASE1, DOC2A, DPEP2, E4F1, EARS2, EEF2K, EME2, ERCC4, FA2H, FAM173A, FAM57B, FAM92B, FANCA, FBXL16, FBXL19, FLYWCH1, FOXC2, FUS, GALNS, GAN, GAS8, GDPD3, GGA2, GLG1, GLIS2, GLYR1, GNAO1, GOT2, GP2, GPR114, GPR139, GPR56, GPRC5B, GRIN2A, GSE1, GSG1L, GSPT1, HAGH, HAGHL, HCFC1R1, HEATR3, HERPUD1, HPR, HS3ST2, HS3ST4, HS3ST6, HSD17B2, HSDL1, HYDIN, IGFALS, IGHV3OR16-13, IL17C, IL32, IL34, IL4R, IQCK, IRX3, IST1, ITGAD, ITGAL, ITGAM, ITPRIPL2, JPH3, KAT8, KATNB1, KCNG4, KDM8, KIAA0430, KIAA0556, KIF22, KIFC3, KLHDC4, KLHL36, LCMT1, LITAF, LMF1, LPCAT2, MAF, MAP1LC3B, MAPK3, MAPK8IP3, MARVELD3, MBTPS1, MC1R, MEFV, MEIOB, METRN, METTL22, METTL9, MLST8, MMP15, MMP2, MMP25, MON1B, MPHOSPH6, MRPS34, MSLN, MSLNL, MT1A, MT1M, MT4, MTHFSD, MVD, MYH11, NAA60, NAE1, NAGPA, NARFL, NDRG4, NFATC3, NLRC3, NLRC5, NME3, NME4, NOB1, NOD2, NOMO2, NOMO3, NPIPB15, NPRL3, NPW, NQO1, NSMCE1, NTN3, NUBP1, NUBP2, NUP93, OGFOD1, OR1F1, OR2C1, ORAI3, OSGIN1, OTOA, PAM16, PDIA2, PDILT, PDPK1, PDPR, PDXDC1, PDZD9, PIEZO1, PIGQ, PKD1, PKD1L2, PLCG2, PMFBP1, POLR2C, POLR3E, POLR3K, PPL, PRKCB, PRM1, PRM3, PRMT7, PRR14, PRRT2, PRSS21, PRSS36, PRSS53, PRSS54, QPRT, RAB11FIP3, RAB40C, RBBP6, RFWD3, RGS11, RHBDF1, RHOT2, RNF166, RNF40, ROGDI, RP11-166B2.1, RP11-276H1.3, RP11-324D17.1, RP11-368I7.4, RP11-830F9.6, RPL13, RPL3L, RPS2, RRN3, RSL1D1, SALL1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPT12, SETD6, SF3B3, SH2B1, SHCBP1, SHISA9, SLC12A3, SLC22A31, SLC5A11, SLC6A2, SLC7A6OS, SLC9A3R2, SLX4, SMG1, SMIM22, SMPD3, SNN, SNRNP25, SNX29, SOX8, SPATA33, SPIRE2, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, STUB1, STX1B, SULT1A1, SULT1A2, SYCE1L, TAF1C, TAOK2, TBC1D10B, TCEB2, TCF25, TEKT5, TELO2, TEPP, TERF2IP, THUMPD1, TK2, TLDC1, TMC7, TMEM159, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TOX3, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRIM72, TSC2, TSNAXIP1, TUBB8P7, TXNDC11, UBALD1, UBE2I, UBN1, UMOD, UNKL, USP10, USP31, USP7, VASN, VPS35, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, ZC3H18, ZCCHC14, ZDHHC7, ZFHX3, ZFP90, ZFPM1, ZG16, ZNF174, ZNF19, ZNF205, ZNF23, ZNF263, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF500, ZNF597, ZNF598, ZNF646, ZNF668, ZNF720, ZNF75A, ZNF768, ZNF778, ZP2, ZSCAN32,

Genes at Omim

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACSF3, ADAMTS18, ALG1, ANKRD11, ARMC5, ATP2A1, AXIN1, BBS2, BCMO1, CA5A, CACNA1H, CCDC78, CD19, CDH3, CDT1, CES1, CETP, CIITA, CNGB1, COG4, COQ7, CYBA, DHODH, DNASE1, EARS2, ERCC4, FA2H, FANCA, FOXC2, FUS, GALNS, GAN, GAS8, GLIS2, GNAO1, GRIN2A, HAGH, HYDIN, IGFALS, IL4R, ITGAM, JPH3, KATNB1, KIF22, LITAF, LMF1, MAF, MC1R, MEFV, MMP2, MVD, MYH11, NOD2, NPRL3, NQO1, NUP93, OTOA, PAM16, PIEZO1, PKD1, PLCG2, PRRT2, ROGDI, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC6A2, SLX4, SRCAP, SSTR5, STUB1, STX1B, TELO2, TK2, TSC2, UMOD, VPS35, WWOX, XYLT1, ZFHX3, ZNF423, ZNF469,
AARS Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)
Epileptic encephalopathy, early infantile, 29, 616339 (3)
ABAT GABA-transaminase deficiency, 613163 (3)
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ABCC11 [Axillary odor, variation in], 117800 (3)
[Colostrum secretion, variation in], 117800 (3)
[Earwax, wet/dry], 117800 (3)
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ACSF3 Combined malonic and methylmalonic aciduria, 614265 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
ALG1 Congenital disorder of glycosylation, type Ik, 608540 (3)
ANKRD11 KBG syndrome, 148050 (3)
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ATP2A1 Brody myopathy, 601003 (3)
AXIN1 ?Caudal duplication anomaly, 607864 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
BBS2 Bardet-Biedl syndrome 2, 615981 (3)
Retinitis pigmentosa 74, 616562 (3)
BCMO1 Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3)
CA5A Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CCDC78 Myopathy, centronuclear, 4, 614807 (3)
CD19 Immunodeficiency, common variable, 3, 613493 (3)
CDH3 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)
CDT1 Meier-Gorlin syndrome 4, 613804 (3)
CES1 Carboxylesterase 1 deficiency (3)
CETP Hyperalphalipoproteinemia, 143470 (3)
[High density lipoprotein cholesterol level QTL 10], 143470 (3)
CIITA Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COG4 Congenital disorder of glycosylation, type IIj, 613489 (3)
COQ7 ?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
DHODH Miller syndrome, 263750 (3)
DNASE1 {Systemic lupus erythematosus, susceptibility to}, 152700 (3)
EARS2 Combined oxidative phosphorylation deficiency 12, 614924 (3)
ERCC4 ?XFE progeroid syndrome, 610965 (3)
Fanconi anemia, complementation group Q, 615272 (3)
Xeroderma pigmentosum, group F, 278760 (3)
Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)
FA2H Spastic paraplegia 35, autosomal recessive, 612319 (3)
FANCA Fanconi anemia, complementation group A, 227650 (3)
FOXC2 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3)
Lymphedema-distichiasis syndrome, 153400 (3)
FUS Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)
Tremor, hereditary essential, 4, 614782 (3)
GALNS Mucopolysaccharidosis IVA, 253000 (3)
GAN Giant axonal neuropathy-1, 256850 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
GLIS2 Nephronophthisis 7, 611498 (3)
GNAO1 Epileptic encephalopathy, early infantile, 17, 615473 (3)
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)
HAGH [Glyoxalase II deficiency], 614033 (1)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IGFALS Acid-labile subunit, deficiency of, 615961 (3)
IL4R {AIDS, slow progression to}, 609423 (3)
{Atopy, susceptibility to}, 147050 (3)
ITGAM {Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3)
JPH3 Huntington disease-like 2, 606438 (3)
KATNB1 Lissencephaly 6, with microcephaly, 616212 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
LITAF Charcot-Marie-Tooth disease, type 1C, 601098 (3)
LMF1 Lipase deficiency, combined, 246650 (3)
MAF Ayme-Gripp syndrome, 601088 (3)
Cataract 21, multiple types, 610202 (3)
MC1R [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3)
[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3)
[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3)
{Albinism, oculocutaneous, type II, modifier of}, 203200 (3)
{Melanoma, cutaneous malignant, 5}, 613099 (3)
{UV-induced skin damage}, 266300 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MMP2 Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
MVD Porokeratosis 7, multiple types, 614714 (3)
MYH11 Aortic aneurysm, familial thoracic 4, 132900 (3)
NOD2 Blau syndrome, 186580 (3)
Sarcoidosis, early-onset, 609464 (3)
{Inflammatory bowel disease (Crohn disease) 1}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NQO1 {Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
{Leukemia, post-chemotherapy, susceptibility to} (3)
NUP93 Nephrotic syndrome, type 12, 616892 (3)
OTOA Deafness, autosomal recessive 22, 607039 (3)
PAM16 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphedema, hereditary, III, 616843 (3)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
Familial cold autoinflammatory syndrome 3, 614468 (3)
PRRT2 Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)
Episodic kinesigenic dyskinesia 1, 128200 (3)
Seizures, benign familial infantile, 2, 605751 (3)
ROGDI Kohlschutter-Tonz syndrome, 226750 (3)
SALL1 Townes-Brocks branchiootorenal-like syndrome, 107480 (3)
Townes-Brocks syndrome, 107480 (3)
SCNN1B Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)
Liddle syndrome, 177200 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SCNN1G Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)
Liddle syndrome, 177200 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SEPT12 Spermatogenic failure 10, 614822 (3)
SLC12A3 Gitelman syndrome, 263800 (3)
SLC6A2 Orthostatic intolerance, 604715 (3)
SLX4 Fanconi anemia, complementation group P, 613951 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
SSTR5 Somatostatin analog, resistance to (3)
STUB1 Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
STX1B Generalized epilepsy with febrile seizures plus, type 9, 616172 (3)
TELO2 You-Hoover-Fong syndrome, 616954 (3)
TK2 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3)
Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
TSC2 Lymphangioleiomyomatosis, somatic, 606690 (3)
Tuberous sclerosis-2, 613254 (3)
UMOD Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)
Hyperuricemic nephropathy, familial juvenile 1, 162000 (3)
Medullary cystic kidney disease 2, 603860 (3)
VPS35 {Parkinson disease 17}, 614203 (3)
WWOX Epileptic encephalopathy, early infantile, 28, 616211 (3)
Esophageal squamous cell carcinoma, somatic, 133239 (3)
Spinocrebellar ataxia, autosomal recessive 12, 614322 (3)
XYLT1 Desbuquois dysplasia 2, 615777 (3)
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
ZFHX3 {Prostate cancer, susceptibility to, somatic}, 176807 (3)
ZNF423 Joubert syndrome 19, 614844 (3)
Nephronophthisis 14, 614844 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

AARS, ABAT, ABCA3, ABCC11, ABCC6, ACSF3, ADAMTS18, ALG1, ANKRD11, ARMC5, ATP2A1, AXIN1, BBS2, CA5A, CD19, CDH3, CDT1, CES1, CETP, CIITA, CNGB1, COG4, COQ7, CYBA, DHODH, DNAAF1, DNASE1, EARS2, ERCC4, FA2H, FANCA, FOXC2, FUS, GALNS, GAN, GAS8, GLIS2, GNAO1, GRIN2A, IGFALS, JPH3, KATNB1, KIAA0556, KIF22, LITAF, LMF1, MAF, MC1R, MEFV, MMP2, MVD, MYH11, NOD2, OTOA, PAM16, PIEZO1, PKD1, PLCG2, PRRT2, ROGDI, SALL1, SCNN1B, SCNN1G, SEPT12, SLC12A3, SLC6A2, SLX4, SRCAP, SSTR5, STUB1, STX1B, TK2, TRAP1, TSC2, UMOD, VPS35, WWOX, XYLT1, ZNF423, ZNF469,
AARS Epileptic encephalopathy, early infantile, 29
Charcot-Marie-Tooth disease, axonal, type 2N
ABAT GABA-transaminase deficiency
ABCA3 Interstitial lung disease
Surfactant metabolism dysfunction, pulmonary, 3
ABCC11 Apocrine gland secretion, variation in
ABCC6 Pseudoxanthoma elasticum
ACSF3 Combined malonic and methylmalonic aciduria
ADAMTS18 Retinal dystrophy, early onset, autosomal recessive
Microcornea, myopic chorioretinal atrophy, and telecanthus
Knobloch syndrome 2
ALG1 Congenital disorder of glycosylation, type Ik
ANKRD11 KBG syndrome
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2
ATP2A1 Brody myopathy
AXIN1 Caudal duplication anomaly
BBS2 Retinitis pigmentosa 74
Bardet-Biedl syndrome 2
CA5A Carbonic anhydrase VA deficiency
CD19 Immunodeficiency, common variable 3
CDH3 Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Hypotrichosis, congenital, with juvenile macular dystrophy
CDT1 Meier-Gorlin syndrome 4
CES1 Carboxylesterase 1 deficiency
CETP Hyperalphalipoproteinemia 1
CIITA Bare lymphocyte syndrome, type II
CNGB1 Retinitis pigmentosa 45
COG4 Congenital disorder of glycosylation, type IIj
COQ7 Coenzyme Q10 deficiency, primary 8
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
DHODH Postaxial acrofacial dysostosis (Miller syndrome)
DNAAF1 Ciliary dyskinesia, primary, 13
DNASE1 Macular dystrophy, North Carolina type
EARS2 Combined oxidative phosphorylation deficiency 12
ERCC4 Xeroderma pigmentosum, group F
Fanconi anemia, complementation group Q
FA2H Spastic paraplegia 35, autosomal recessive
FANCA Fanconi anemia, complementation group A
FOXC2 Lymphedema-distichiasis syndrome
FUS Essential tremor
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
GALNS Mucopolysaccharidosis IVA (Morquio syndrome A)
GAN Giant axonal neuropathy 1, autosomal recessive
GAS8 Ciliary dyskinesia, primary, 33
GLIS2 Nephronophthisis 7
GNAO1 Epileptic encephalopathy, early infantile, 17
GRIN2A Epilepsy, focal, with speech disorder and with or without mental retardation
IGFALS Insulin-like growth factor-binding protein, acid-labile subunit, deficiency of
JPH3 Huntington disease-like 2
KATNB1 Lissencephaly 6, with microcephaly
KIAA0556 Joubert syndrome 26
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
LITAF Charcot-Marie-Tooth disease, type 1C
LMF1 Combined lipase deficiency
MAF Ayme-Gripp syndrome
MC1R Increased analgesia from kappa-opioid receptor agonist, female specific
MEFV Familial Mediterranean fever
MMP2 Multicentric osteolysis, nodulosis, and arthropathy
Torg-Winchester syndrome
MVD Porokeratosis 7
MYH11 Aortic aneurysm, familial thoracic 4
NOD2 Sarcoidosis, early-onset
Blau syndrome
OTOA Deafness, autosomal recessive 22
PAM16 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PKD1 Polycystic kidney disease, adult type I
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
Familial cold autoinflammatory syndrome 3 (PLAID)
PRRT2 Episodic kinesigenic dyskinesia 1
ROGDI Kohlschutter-Tonz syndrome
SALL1 Townes-Brocks syndrome
SCNN1B Bronchiectasis with or without elevated sweat chloride 3
Liddle syndrome
Pseudohypoaldosteronism, type I
SCNN1G Bronchiectasis with or without elevated sweat chloride 3
Liddle syndrome
Pseudohypoaldosteronism, type I
SEPT12 Spermatogenic failure 10
SLC12A3 Gitelman syndrome
SLC6A2 Orthostatic intolerance
SLX4 Fanconi anemia type P
SRCAP Floating-Harbor syndrome
SSTR5 Resistance to somatostatin treatment
STUB1 Spinocerebellar ataxia, autosomal recessive 16
STX1B Generalized epilepsy with febrile seizures plus, type 9
TK2 Mitochondrial DNA depletion syndrome 2
TRAP1 VACTERL association
Congenital abnormalities of the kidney and urinary tract
TSC2 Lymphangioleiomyomatosis
Tuberous sclerosis 2
UMOD Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Familial juvenile hyperuricemic nephropathy
VPS35 Parkinson disease 17
WWOX Spinocerebellar ataxia, autosomal recessive 12
Epileptic encephalopathy, early infantile, 28
XYLT1 Desbuquois dysplasia 2
ZNF423 Nephronophthisis 14
Joubert syndrome 19
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 5728
Number of Genes: 413

Export to: CSV

AARS

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 mm170241ct 16 rs117598688
dbSNP
70298949 704.77 G A . 0/1 52 SYNONYMOUS_CODING LOW SILENT 0.00459 0.00459 0.00662 None None None None None None None
View mm170241ct 16 rs4081753
dbSNP
70287177 694.77 A G . 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.88119 0.88120 0.15082 None None None None None None None

ABAT

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 mm170241ct 16 rs1641022
dbSNP
8868776 119.77 C A . 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.31749 0.31750 0.32261 None None None None None None None
View mm170241ct 16 rs2229157
dbSNP
8844389 456.77 C T . 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.10483 0.10480 0.08989 None None None None None None None

ABCA3

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 mm170241ct 16 rs149532
dbSNP
2331430 1119.77 A G . 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.90096 0.90100 0.13058 None None None None None None None

ABCC1

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 mm170241ct 16 rs35605
dbSNP
16162019 2316.77 T C . 1/1 71 SYNONYMOUS_CODING LOW SILENT 0.78654 0.78650 0.15359 None None None None None None None

ABCC11

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 mm170241ct 16 rs16945974
dbSNP
48256602 1567.77 T C . 0/1 111 SYNONYMOUS_CODING LOW SILENT 0.13419 0.13420 0.14700 None None None None None None None
View mm170241ct 16 rs16945988
dbSNP
48265777 1180.77 C T . 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11002 0.11000 0.12792 0.00 0.00 None None None None None None None
View mm170241ct 16 rs12443685
dbSNP
48226479 287.77 C T . 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.13638 0.13640 0.14821 None None None None None None None
View mm170241ct 16 rs11863236
dbSNP
48250026 930.77 G T . 0/1 77 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.12899 0.12900 0.14359 0.56 0.00 None None None None None None None
View mm170241ct 16 rs8047091
dbSNP
48248918 925.77 T C . 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.16993 0.16990 0.21051 None None None None None None None
View mm170241ct 16 rs41282045
dbSNP
48234381 969.77 G A . 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00260 0.00260 0.00562 0.03 0.46 None None None None None None None

ABCC12

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 mm170241ct 16 rs7193955
dbSNP
48122582 984.77 G A . 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59125 0.59130 0.40394 0.09 0.01 None None None None None None None

ABCC6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 16 rs58668703
dbSNP
16244584 277.77 C T . 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.00300 0.00300 0.00893 None None None None None None None
View mm170241ct 16 rs2856585
dbSNP
16263663 63.77 G A . 0/1 9 SYNONYMOUS_CODING LOW SILENT 0.12400 0.12400 0.07829 None None None None None None None
View mm170241ct 16 rs9924755
dbSNP
16271409 536.77 G A . 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.15156 0.15160 0.18816 None None None None None None None
View mm170241ct 16 rs7500834
dbSNP
16272670 1203.77 T C . 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.96446 0.96450 0.03548 None None None None None None None
View mm170241ct 16 rs12931472
dbSNP
16281007 177.77 A G . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33946 0.33950 0.46398 0.77 0.00 None None None None None None None
View mm170241ct 16 rs8058696
dbSNP
16278869 519.77 G C . 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.33267 0.33270 0.45306 None None None None None None None
View mm170241ct 16 rs8058694
dbSNP
16278863 572.77 G T . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33267 0.33270 0.45306 0.59 0.00 None None None None None None None
View mm170241ct 16 rs6416668
dbSNP
16271357 1514.77 T C . 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96426 0.96430 0.03556 0.29 0.00 None None None None None None None

AC004381.6

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 mm170241ct 16 rs9929443
dbSNP
20855309 1532.77 A G . 1/1 44 SYNONYMOUS_CODING LOW SILENT 0.82428 0.82430 0.16751 None None None None None None None

AC010536.1

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 mm170241ct 16 rs34111279
dbSNP
87729334 1165.73 C CA . 0/1 64 FRAME_SHIFT HIGH None None None None None None None

ACSF3

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 mm170241ct 16 rs7193255
dbSNP
89167404 1194.77 T C . 1/1 38 SYNONYMOUS_CODING LOW SILENT 0.61981 0.61980 0.27532 None None None None None None None
View mm170241ct 16 rs6500526
dbSNP
89167395 1118.77 C T . 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.61901 0.61900 0.27585 None None None None None None None
View mm170241ct 16 rs7188200
dbSNP
89167094 601.77 T C . 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62440 0.62440 0.27 0.00 None None None None None None None
View mm170241ct 16 rs6500529
dbSNP
89167458 1225.77 C A . 1/1 37 SYNONYMOUS_CODING LOW SILENT 0.61921 0.61920 None None None None None None None
View mm170241ct 16 rs12447947
dbSNP
89199651 191.77 G A . 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.14537 0.14540 0.26277 None None None None None None None
View mm170241ct 16 rs6500527
dbSNP
89167431 1140.77 G C . 1/1 34 SYNONYMOUS_CODING LOW SILENT 0.61981 0.61980 0.27755 None None None None None None None
View mm170241ct 16 rs7201122
dbSNP
89167140 1155.77 G C . 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.84924 0.84920 0.08482 None None None None None None None
View mm170241ct 16 rs3743979
dbSNP
89180883 651.77 G A . 1/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62959 0.62960 0.29186 0.10 0.63 None None None None None None None
View mm170241ct 16 rs6500528
dbSNP
89167443 1037.77 T C . 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.61981 0.61980 0.27455 None None None None None None None

ACSM1

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 mm170241ct 16 rs2301672
dbSNP
20636814 1768.77 G A . 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.18031 0.18030 0.09468 None None None None None None None
View mm170241ct 16 rs1692729
dbSNP
20638576 1238.77 A T . 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.60583 0.60580 0.46293 None None None None None None None
View mm170241ct 16 rs3743690
dbSNP
20635418 2085.77 C T . 1/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.18371 0.18370 0.09722 None None None None None None None

ACSM2A

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 mm170241ct 16 rs59292608
dbSNP
20471450 2657.77 G A . 1/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16953 0.16950 0.10834 0.35 0.01 None None None None None None None
View mm170241ct 16 rs7187246
dbSNP
20476852 1237.78 T C . 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50559 0.50560 0.38667 1.00 0.00 None None None None None None None
View mm170241ct 16 rs1700805
dbSNP
20488696 6302.77 A G . 1/1 303 SYNONYMOUS_CODING LOW SILENT 0.48482 0.48480 0.35969 None None None None None None None
View mm170241ct 16 rs9924150
dbSNP
20492000 804.77 A G . 1/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82628 0.82630 1.00 0.00 None None None None None None None

ACSM2B

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 mm170241ct 16 rs112352583,rs78729855
dbSNP
20576048 3775.77 C A . 1/1 140 SYNONYMOUS_CODING LOW SILENT 0.26518 0.26520 0.14797 None None None None None None None
View mm170241ct 16 rs8056693
dbSNP
20570661 1200.77 T C . 1/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95347 0.95350 1.00 0.00 None None None None None None None

ACSM5

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 mm170241ct 16 rs8062344
dbSNP
20441053 666.77 C G . 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43910 0.43910 0.40135 0.00 0.96 None None None None None None None
View mm170241ct 16 rs8063682
dbSNP
20441084 577.77 T C . 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.54253 0.54250 0.43532 None None None None None None None
View mm170241ct 16 rs762397001
dbSNP
20430566 1402.77 G A . 0/1 91 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ADAD2

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 mm170241ct 16 rs2303238
dbSNP
84229559 590.77 T C . 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.80531 0.80530 0.16659 None None None None None None None

ADAMTS18

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 mm170241ct 16 rs13332812
dbSNP
77281905 722.77 C T . 0/1 41 None None None 0.04093 0.04093 0.00 None None None None None None None
View mm170241ct 16 rs9930984
dbSNP
77353973 353.77 G T . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63498 0.63500 0.48561 0.12 0.00 None None None None None None None
View mm170241ct 16 rs8059275
dbSNP
77389956 3906.77 A G . 1/1 123 SYNONYMOUS_CODING LOW SILENT 0.88219 0.88220 0.12527 None None None None None None None
View mm170241ct 16 rs35478105
dbSNP
77325325 447.77 G T . 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22784 0.22780 0.36819 0.03 0.55 None None None None None None None
View mm170241ct 16 rs11640912
dbSNP
77359919 3734.77 A T . 0/1 267 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43950 0.43950 0.31887 0.00 0.00 None None None None None None None

ADAT1

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 mm170241ct 16 rs3743598
dbSNP
75646685 689.77 G T . 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57049 0.57050 0.36450 0.71 0.00 None None None None None None None

ADCY7

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 mm170241ct 16 rs8051594
dbSNP
50326661 1951.77 A G . 1/1 57 SYNONYMOUS_CODING LOW SILENT 0.99441 0.99440 0.00639 None None None None None None None
View mm170241ct 16 rs76942953
dbSNP
50332895 615.77 C T . 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.00319 0.00320 0.00015 None None None None None None None

ADCY9

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 mm170241ct 16 rs2240735
dbSNP
4027605 1118.77 C T . 1/1 37 SYNONYMOUS_CODING LOW SILENT 0.46845 0.46850 0.42151 None None None None None None None
View mm170241ct 16 rs2230742
dbSNP
4016676 2038.77 A G . 1/1 67 SYNONYMOUS_CODING LOW SILENT 0.73063 0.73060 0.19871 None None None None None None None
View mm170241ct 16 rs2230739
dbSNP
4033436 629.77 T C . 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26038 0.26040 0.25681 0.30 0.00 None None None None None None None
View mm170241ct 16 rs2530898
dbSNP
4165432 42.74 T C . 1/1 3 SYNONYMOUS_CODING LOW SILENT 0.99980 0.99980 None None None None None None None

ALG1

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 mm170241ct 16 rs112683515
dbSNP
5122072 753.73 G GGTCT . 0/1 29 None None None 0.58347 0.58350 0.48735 None None None None None None None

ANKRD11

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 mm170241ct 16 rs2279349
dbSNP
89350178 1504.77 G A . 1/1 42 SYNONYMOUS_CODING LOW SILENT 0.76358 0.76360 0.14782 None None None None None None None
View mm170241ct 16 rs2279348
dbSNP
89350038 2003.77 G A . 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53355 0.53350 0.30299 0.00 None None None None None None None

ANKS3

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 mm170241ct 16 rs841210
dbSNP
4752134 663.77 A G . 1/1 22 SYNONYMOUS_CODING LOW SILENT 0.52995 0.53000 0.44559 None None None None None None None
View mm170241ct 16 rs841214
dbSNP
4748825 1339.77 C T . 1/1 42 SYNONYMOUS_CODING LOW SILENT 0.40495 0.40500 0.38305 None None None None None None None
View mm170241ct 16 rs863980
dbSNP
4751045 1549.77 C T . 1/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51238 0.51240 0.46737 0.89 0.00 None None None None None None None

APOBR

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 mm170241ct 16 rs40832
dbSNP
28508716 744.77 T C . 1/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98702 0.98700 0.01757 1.00 0.00 None None None None None None None

ARMC5

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 mm170241ct 16 rs11150624
dbSNP
31476458 174.77 C T . 0/1 21 None None None 0.30411 0.30410 0.31951 0.00 None None None None None None None
View mm170241ct 16 rs151069962
dbSNP
31470886 1258.77 T A . 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02356 0.02356 0.04236 0.69 0.00 None None None None None None None

ATF7IP2

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 mm170241ct 16 rs34404959
dbSNP
10525230 1165.77 T C . 0/1 103 SYNONYMOUS_CODING LOW SILENT 0.24241 0.24240 0.21672 None None None None None None None
View mm170241ct 16 rs34430103
dbSNP
10524957 2255.77 G T . 0/1 174 SYNONYMOUS_CODING LOW SILENT 0.17951 0.17950 0.15007 None None None None None None None

ATMIN

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 mm170241ct 16 rs2257378
dbSNP
81077915 9084.77 T C . 1/1 260 SYNONYMOUS_CODING LOW SILENT 0.70268 0.70270 0.25615 None None None None None None None

ATP2A1

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 mm170241ct 16 rs6565259
dbSNP
28898793 691.77 T C . 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.33886 0.33890 0.40365 None None None None None None None

ATP2C2

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 mm170241ct 16 rs247818
dbSNP
84444349 1504.77 A C . 1/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99621 0.99620 0.00215 1.00 0.00 None None None None None None None
View mm170241ct 16 rs410388
dbSNP
84493144 1381.77 C G . 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99840 0.99840 0.59 0.00 None None None None None None None
View mm170241ct 16 rs247897
dbSNP
84476200 506.77 A T . 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40815 0.40810 0.38959 0.51 0.06 None None None None None None None
View mm170241ct 16 rs247885
dbSNP
84485573 1498.77 C A . 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.99820 0.99820 0.00180 None None None None None None None

ATXN1L

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 mm170241ct 16 rs61747555
dbSNP
71885423 633.77 A G . 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16933 0.16930 0.15243 0.13 0.00 None None None None None None None

ATXN2L

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 mm170241ct 16 rs576296256
dbSNP
28835776 322.77 C T . 0/1 17 None None None 0.00060 0.00060 0.00 0.00 None None None None None None None
View mm170241ct 16 rs4344749
dbSNP
28842311 931.77 A G . 1/1 26 SYNONYMOUS_CODING LOW SILENT 0.99780 0.99780 0.00239 None None None None None None None

AXIN1

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 mm170241ct 16 rs1805105
dbSNP
396264 739.77 A G . 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.63898 0.63900 0.28587 None None None None None None None
View mm170241ct 16 rs214250
dbSNP
348222 303.77 C T . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.21026 0.21030 0.24871 None None None None None None None
View mm170241ct 16 rs214252
dbSNP
347184 874.77 A G . 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.20927 0.20930 0.28095 None None None None None None None

BAIAP3

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 mm170241ct 16 rs7202563
dbSNP
1389153 773.77 C A . 1/1 27 None None None 0.95627 0.95630 0.06378 0.49 0.01 None None None None None None None
View mm170241ct 16 rs1132356
dbSNP
1394507 1779.77 A C . 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95108 0.95110 0.07901 0.92 0.00 None None None None None None None
View mm170241ct 16 rs1132358
dbSNP
1397815 1720.77 C T . 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.33766 0.33770 0.36976 None None None None None None None

BANP

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 mm170241ct 16 rs7499814
dbSNP
88052161 921.77 C A . 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.58047 0.58050 0.32674 None None None None None None None
View mm170241ct 16 rs8050209
dbSNP
88105725 348.77 G A . 1/1 11 SYNONYMOUS_CODING LOW SILENT 0.45487 0.45490 0.45611 None None None None None None None
View mm170241ct 16 rs3815820
dbSNP
88017809 1475.77 C T . 1/1 48 SYNONYMOUS_CODING LOW SILENT 0.58726 0.58730 None None None None None None None

BBS2

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 mm170241ct 16 rs11373
dbSNP
56545175 3539.77 T C . 0/1 266 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26358 0.26360 0.19545 0.58 0.00 None None None None None None None
View mm170241ct 16 rs4784677
dbSNP
56548501 3997.77 C T . 1/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99641 0.99640 0.00554 1.00 0.00 None None None None None None None

BCAR1

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 mm170241ct 16 rs16957558
dbSNP
75269325 296.77 C T . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02816 0.02815 0.02356 0.04 0.02 None None None None None None None
View mm170241ct 16 rs11545087
dbSNP
75269003 742.77 G A . 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.03894 0.03894 0.03032 None None None None None None None
View mm170241ct 16 rs1035539
dbSNP
75276775 129.77 G A . 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59385 0.59380 0.42286 0.39 0.01 None None None None None None None
View mm170241ct 16 rs3169330
dbSNP
75269267 1149.77 A G . 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.92632 0.92630 0.15451 None None None None None None None
View mm170241ct 16 rs148519476
dbSNP
75301838 124.77 G C . 0/1 14 None None None 0.03754 0.03754 0.02930 0.27 0.00 None None None None None None None
View mm170241ct 16 rs3743613
dbSNP
75269534 516.77 C T . 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.47185 0.47180 0.30454 None None None None None None None

BCMO1

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 mm170241ct 16 rs28370522
dbSNP
81279120 545.77 T C . 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.37959 0.37960 0.38750 None None None None None None None
View mm170241ct 16 rs12934922
dbSNP
81301694 853.77 A T . 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22724 0.22720 0.35251 0.03 0.00 None None None None None None None

BFAR

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 mm170241ct 16 rs11546303
dbSNP
14742400 1024.77 T G . 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25200 0.25200 0.31715 0.66 0.00 None None None None None None None

BRD7

Omim - GeneCards - NCBI
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 16 . 50362654 958.77 C T . 0/1 76 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.06 1.00 None None None None None None None

BRICD5

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 mm170241ct 16 rs26857
dbSNP
2260567 354.77 C T . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51558 0.51560 0.47889 0.48 0.02 None None None None None None None
View mm170241ct 16 rs26856
dbSNP
2260612 838.77 T C . 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63279 0.63280 0.31255 1.00 0.00 None None None None None None None