SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS200518324 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS200518403 PKD1L1 Health Risk Likely pathogenic Heterotaxy, visceral
RS200518498 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS200518703 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS200518712 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200518765 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS200519444 DYRK1A Health Risk Likely pathogenic Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
RS200519530 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS200519702 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200519781 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS200520478 RIPK3 Health Risk Conflicting classifications of pathogenicity —
RS200520583 PKD1 Health Risk Pathogenic —
RS200520623 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS200520924 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200520956 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS200520976 PROM1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 12, Retinal macular dystrophy type 2
RS200521017 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS200521238 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200521328 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS200521449 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies
RS200521815 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS200521839 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS200521980 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS200522460 RFX6 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Monogenic diabetes
RS200522574 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS200522966 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS200523155 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200523422 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, COL11A2-related disorder
RS200523717 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS200523730 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS200524049 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS200524064 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS200524076 CHRNA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHRNA4-related disorder
RS200524116 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS200524362 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS200524407 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200524486 KPNA7 Health Risk Conflicting classifications of pathogenicity —
RS200524526 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS200524554 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS200524686 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS200525458 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS200525579 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200525912 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS200525962 RYR2 Health Risk Conflicting classifications of pathogenicity Sudden cardiac death, Cardiomyopathy
RS200526162 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS200526913 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS200527588 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS200527708 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS200527840 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200528601 XRCC1 Health Risk Conflicting classifications of pathogenicity XRCC1-related disorder, XRCC1-related disorder
RS200528850 TRIOBP Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS200528879 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS200528985 STIM1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome
RS200529020 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS200529044 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS200529056 CNGA2 Health Risk Conflicting classifications of pathogenicity —
RS200529379 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200529550 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS200529564 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS200529923 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Cardiovascular phenotype
RS200530055 DPH1 Health Risk Conflicting classifications of pathogenicity Developmental delay with short stature, dysmorphic facial features
RS200530343 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS200530358 DLST Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Acute myeloid leukemia
RS200530606 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, EPG5-related disorder
RS200531038 TRO Health Risk Conflicting classifications of pathogenicity —
RS200531412 SNORD118;TMEM107 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with calcifications and cysts, Meckel syndrome 13
RS200531495 OSBPL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, OSBPL2-related disorder
RS200531611 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS200532064 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS200532154 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS200532195 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS200532368 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS200532713 STIL Health Risk Conflicting classifications of pathogenicity —
RS200532919 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS200532942 RUBCN Health Risk Conflicting classifications of pathogenicity —
RS200533315 CNKSR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200533370 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS200533477 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS200533815 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS200534823 ANKS1B Health Risk Conflicting classifications of pathogenicity ANKS1B-related disorder, ANKS1B-related disorder
RS200534908 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Lymphoma
RS200535361 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS200535620 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS200536170 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200536497 ABHD12 Health Risk Pathogenic —
RS200536604 SLC34A3 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Autosomal recessive hypophosphatemic bone disease
RS200536613 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200536790 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Neuralgic amyotrophy, Neuralgic amyotrophy
RS200536814 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS200536855 CLCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital myotonia
RS200536956 PRAMEF2 Health Risk Conflicting classifications of pathogenicity —
RS200537032 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS200537449 SIX6 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS200537612 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS200537697 ZFP57 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS200537937 MMP13 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Missouri type
RS200538123 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS200538234 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, ZAP70-related disorder
RS200538373 ABCA7 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 9, ABCA7-related disorder
RS200538599 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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