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
RS1564691414 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1564692984 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1564695476 ABCC2 Health Risk Pathogenic —
RS1564696849 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1564697048 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1564698683 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS1564698850 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS1564699214 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1564701009 ABCC2 Health Risk Pathogenic —
RS1564702358 ABCC2 Health Risk Pathogenic —
RS1564704121 KIF11 Health Risk Conflicting classifications of pathogenicity —
RS1564704133 EHMT1 Health Risk Pathogenic —
RS1564704457 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1564706226 PAX2 Health Risk Likely pathogenic —
RS1564706973 PAX2 Health Risk Likely pathogenic —
RS1564709234 SLC39A4 Health Risk Pathogenic/Likely pathogenic —
RS1564709391 MXI1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1564709862 SLC39A4 Health Risk Pathogenic —
RS1564710631 BMPR1A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1564710641 BMPR1A Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1564711403 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS1564713037 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1564714645 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, RASopathy
RS1564714744 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1564714804 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1564714809 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1564714834 BMPR1A Health Risk Pathogenic/Likely pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS1564715427 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Cervical cancer
RS1564717692 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1564717740 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1564717888 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1564719070 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1564719151 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1564720605 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1564720637 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1564721202 VPS13A Health Risk Pathogenic —
RS1564721906 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1564721929 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1564722014 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1564722302 DNMBP Health Risk Pathogenic Cataract 48, Cataract 48
RS1564722420 PAX2 Health Risk Likely pathogenic —
RS1564723150 DNMBP Health Risk Pathogenic Cataract 48, Cataract 48
RS1564723449 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS1564723486 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1564723653 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS1564724111 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1564724278 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1564724291 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS1564725052 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1564725603 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Polyposis syndrome
RS1564725764 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1564726619 HKDC1 Health Risk Likely pathogenic Short stature, Short stature
RS1564729703 TONSL Health Risk Pathogenic —
RS1564730440 ARL3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 83, Retinitis pigmentosa 83
RS1564730556 ERCC6 Health Risk Pathogenic —
RS1564731646 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1564735244 VPS13A Health Risk Likely pathogenic —
RS1564737136 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1564744631 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1564745688 DNMBP Health Risk Pathogenic Cataract 48, Cataract 48
RS1564748504 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype
RS1564748606 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Wolman disease
RS1564749141 CDH23 Health Risk Pathogenic —
RS1564751655 EMX2 Health Risk Pathogenic Schizencephaly, Schizencephaly
RS1564751995 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS1564752095 FOXH1 Health Risk Likely pathogenic Conotruncal defect, Conotruncal defect
RS1564752665 LIPA Health Risk Pathogenic —
RS1564753490 LIPA Health Risk Likely pathogenic Wolman disease, Cholesteryl ester storage disease
RS1564753668 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1564754571 ACADSB Health Risk Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS1564754574 LIPA Health Risk Pathogenic —
RS1564755287 LIPA Health Risk Pathogenic —
RS1564759522 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS1564759653 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS1564760008 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1564762808 CDH23 Health Risk Likely pathogenic —
RS1564767043 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1564768174 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS1564773559 BAG3 Health Risk Pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS1564773589 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1564774433 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1564774668 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1564776999 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1564777724 CYP17A1 Health Risk Likely pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS1564778398 CYP17A1 Health Risk Pathogenic —
RS1564788732 CDH23 Health Risk Pathogenic —
RS1564788957 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Costello syndrome
RS1564789700 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Costello syndrome
RS1564789897 SMC3 Health Risk Pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1564790457 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564791773 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1
RS1564791894 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564792181 SMC3 Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1564794233 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1564794448 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564794944 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS1564795354 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS1564796294 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS1564796487 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS1564796673 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
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