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
RS1064795693 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064795694 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064795696 TRPV4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS1064795698 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064795700 BAG3 Health Risk Likely pathogenic —
RS1064795702 FHL1 Health Risk Likely pathogenic —
RS1064795703 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1064795705 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1064795707 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064795711 SCN11A Health Risk Likely pathogenic —
RS1064795712 GRIN1 Health Risk Conflicting classifications of pathogenicity GRIN1-related disorder, GRIN1-related disorder
RS1064795716 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1064795718 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1064795719 CHRND Health Risk Likely pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1064795720 NSD1 Health Risk Likely pathogenic —
RS1064795722 CDH23 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS1064795724 APC Health Risk Pathogenic —
RS1064795725 IQSEC2 Health Risk Likely pathogenic —
RS1064795726 RERE Health Risk Likely pathogenic —
RS1064795728 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1064795729 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1064795730 NF1 Health Risk Likely pathogenic —
RS1064795731 CDK13 Health Risk Pathogenic Congenital heart defects, dysmorphic facial features
RS1064795732 SETD5 Health Risk Likely pathogenic —
RS1064795733 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1064795734 NSD1 Health Risk Pathogenic —
RS1064795735 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1064795736 SCN1A Health Risk Likely pathogenic —
RS1064795738 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS1064795739 EYA1 Health Risk Likely pathogenic —
RS1064795743 OPA1 Health Risk Likely pathogenic —
RS1064795748 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1064795749 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS1064795750 LAMA2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS1064795751 CACNA1A Health Risk Likely pathogenic —
RS1064795753 ZC4H2 Health Risk Likely pathogenic Wieacker-Wolff syndrome, female-restricted
RS1064795754 RIGI Health Risk Conflicting classifications of pathogenicity —
RS1064795756 SCN1A Health Risk Likely pathogenic —
RS1064795757 CHD4 Health Risk Likely pathogenic —
RS1064795758 PIGO Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1064795759 SHANK3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1064795760 BICD2 Health Risk Pathogenic/Likely pathogenic 14 conditions, Spinal muscular atrophy
RS1064795761 KMT2C Health Risk Likely pathogenic —
RS1064795762 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Immunodeficiency 14
RS1064795764 BICD2 Health Risk Likely pathogenic —
RS1064795769 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795770 COL12A1 Health Risk Likely pathogenic —
RS1064795771 MAP3K7 Health Risk Likely pathogenic —
RS1064795772 SLC25A46 Health Risk Pathogenic Inborn genetic diseases, Neuropathy
RS1064795774 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064795775 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795778 EXT1 Health Risk Pathogenic —
RS1064795779 CACNA1E Health Risk Likely pathogenic —
RS1064795783 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1064795784 SCN5A Health Risk Pathogenic/Likely pathogenic —
RS1064795785 GJB1 Health Risk Likely pathogenic —
RS1064795786 BAP1 Health Risk Pathogenic —
RS1064795789 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795790 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1064795792 APC Health Risk Pathogenic —
RS1064795793 KCNC3 Health Risk Likely pathogenic —
RS1064795794 CREBBP Health Risk Likely pathogenic —
RS1064795797 GLRA1 Health Risk Likely pathogenic —
RS1064795798 GNAS Health Risk Likely pathogenic —
RS1064795800 CACNA1A Health Risk Likely pathogenic Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy
RS1064795801 TRAPPC9 Health Risk Likely pathogenic —
RS1064795802 ALG11 Health Risk Likely pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS1064795803 ALG11 Health Risk Likely pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS1064795805 GABRA1 Health Risk Likely pathogenic Idiopathic generalized epilepsy, Epilepsy
RS1064795806 IQSEC2 Health Risk Likely pathogenic —
RS1064795809 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS1064795810 OTX2 Health Risk Likely pathogenic —
RS1064795811 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS1064795812 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS1064795813 DEAF1 Health Risk Pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS1064795815 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1064795816 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1064795817 SATB2 Health Risk Likely pathogenic —
RS1064795818 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1064795821 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064795824 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064795825 HIVEP2 Health Risk Likely pathogenic —
RS1064795826 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1064795831 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064795832 SCN2A Health Risk Conflicting classifications of pathogenicity —
RS1064795833 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1064795834 PCDH19 Health Risk Likely pathogenic —
RS1064795835 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS1064795836 CD36 Health Risk Likely pathogenic —
RS1064795837 ANK1 Health Risk Pathogenic/Likely pathogenic —
RS1064795838 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS1064795839 COLQ Health Risk Likely pathogenic —
RS1064795840 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795842 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS1064795843 TMEM67 Health Risk Likely pathogenic —
RS1064795844 GNB1 Health Risk Likely pathogenic —
RS1064795845 CDC42 Health Risk Likely pathogenic Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Neurodevelopmental abnormality
RS1064795851 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795852 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Inborn genetic diseases
RS1064795854 FLNA Health Risk Likely pathogenic —
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