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
RS1592220835 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1592220915 HMBS Health Risk Pathogenic/Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS1592221192 COL2A1 Health Risk Likely pathogenic COL2A1-related phenotype, COL2A1-related phenotype
RS1592221459 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592221672 HMBS Health Risk Conflicting classifications of pathogenicity —
RS1592221728 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592221830 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592221930 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1592222308 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension, Cardiovascular phenotype
RS1592223028 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592223392 ACVRL1 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS1592223399 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592223416 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592223468 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592223490 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592223964 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1592224087 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592224220 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1592224291 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1592224349 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1592224385 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1592224402 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592224412 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1592225036 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1592225044 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1592225112 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1592225374 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS1592227238 DRC2 Health Risk Pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS1592228303 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1592230091 COL2A1 Health Risk Pathogenic Retinal detachment, Retinal detachment
RS1592232040 COL2A1 Health Risk Pathogenic —
RS1592232116 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1592233968 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS1592235124 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome, Stickler syndrome
RS1592235212 COL2A1 Health Risk Pathogenic —
RS1592235241 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, COL2A1-related disorder
RS1592238899 COL2A1 Health Risk Pathogenic —
RS1592252556 WNT10B Health Risk Likely pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS1592257435 WNT1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1592257820 WNT1 Health Risk Likely pathogenic —
RS1592259391 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1592260393 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS1592264179 KRT1 Health Risk Likely pathogenic —
RS1592270989 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS1592273770 CHD4 Health Risk Likely pathogenic —
RS1592273799 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS1592280796 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1592280833 CDKN1B Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS1592280877 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1592280948 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1592280992 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1592281087 CDKN1B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS1592281257 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1592281716 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS1592283787 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS1592289150 SMARCD1 Health Risk Pathogenic Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
RS1592294569 SMARCD1 Health Risk Pathogenic Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
RS1592295890 SMARCD1 Health Risk Pathogenic Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
RS1592295914 SMARCD1 Health Risk Pathogenic Coffin-Siris syndrome 11, Coffin-Siris syndrome 11
RS1592303371 GPD1 Health Risk Likely pathogenic Transient infantile hypertriglyceridemia and hepatosteatosis, Transient infantile hypertriglyceridemia and hepatosteatosis
RS1592324196 SMARCC2 Health Risk Likely pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS1592338256 PRIM1 Health Risk Likely pathogenic —
RS1592341222 ALG9 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1592348310 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592348542 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592348901 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592349567 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592350160 PAX6 Health Risk Likely pathogenic —
RS1592350356 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592350883 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS1592350887 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS1592354614 CEP164 Health Risk Likely pathogenic —
RS1592362719 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Amyotrophic lateral sclerosis
RS1592366898 PAX6 Health Risk Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592367444 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592367623 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592369407 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592369500 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592369895 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592370052 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592370265 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592371840 RASGRP2 Health Risk Likely pathogenic Abnormal platelet aggregation, Abnormal bleeding
RS1592372097 RASGRP2 Health Risk Likely pathogenic Abnormal platelet aggregation, Abnormal platelet aggregation
RS1592372480 RASGRP2 Health Risk Likely pathogenic Abnormal platelet aggregation, Abnormal platelet aggregation
RS1592378730 RASGRP2 Health Risk Likely pathogenic Abnormal platelet aggregation, Abnormal platelet aggregation
RS1592379014 RASGRP2 Health Risk Likely pathogenic Abnormal platelet aggregation, Abnormal platelet aggregation
RS1592380672 SCN8A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1592380687 SCN8A Health Risk Likely pathogenic Cognitive impairment with or without cerebellar ataxia, Seizures
RS1592380699 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Seizures
RS1592380743 SLC11A2 Health Risk Pathogenic Microcytic anemia with liver iron overload, SLC11A2-related disorder
RS1592380834 SCN8A Health Risk Pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS1592380859 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1592384832 RASGRP2 Health Risk Pathogenic Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18
RS1592387849 SCN8A Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1592387932 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1592389210 SCN8A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1592390511 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Developmental and epileptic encephalopathy
RS1592392873 SCN8A Health Risk Conflicting classifications of pathogenicity Seizure, Intellectual disability
RS1592400784 CBL Health Risk Pathogenic CBL-related disorder, Acute myeloid leukemia
RS1592400852 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
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