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
RS143896591 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS1438975574 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS143897670 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS1438990537 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS143899594 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS143900318 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS143900788 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS143900928 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS143900944 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS143901083 CYLC1 Health Risk risk factor Spermatogenic failure, X-linked
RS143901408 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1439018038 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS143902143 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Inborn genetic diseases
RS143903715 NODAL Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS1439043436 PLOD1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS143904490 RNF213 Health Risk Conflicting classifications of pathogenicity RNF213-related disorder, RNF213-related disorder
RS1439046582 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1439063013 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS143906738 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS1439069684 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS143907597 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS143907628 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS143908264 SLC26A2 Health Risk Conflicting classifications of pathogenicity Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4
RS143908642 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS143908758 C8A Health Risk Conflicting classifications of pathogenicity Type I complement component 8 deficiency, C8A-related disorder
RS143909348 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Acute myeloid leukemia
RS1439109327 SETX Health Risk Pathogenic —
RS143912297 COL27A1 Health Risk Conflicting classifications of pathogenicity COL27A1-related disorder, Inborn genetic diseases
RS143912353 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder
RS1439127307 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS143912759 PSEN2 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, PSEN2-related disorder
RS1439129239 EMC1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS143912947 MIPEP Health Risk Conflicting classifications of pathogenicity Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Floppy infant
RS1439134665 CYBA Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS143913650 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS143913941 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS143914387 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS143914684 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS143914758 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1439150504 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS1439151268 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS143916053 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1439160668 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1439167347 ABCG8 Health Risk Pathogenic —
RS1439168205 FLG Health Risk Pathogenic —
RS143916832 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS143916878 STIM1 Health Risk Conflicting classifications of pathogenicity Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency
RS1439169192 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS143917509 B3GALNT2;TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Encephalopathy
RS143918373 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases
RS143919163 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Leprechaunism syndrome
RS143919208 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1439195599 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS143919939 TUBB4B Health Risk Conflicting classifications of pathogenicity —
RS143920053 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1439202144 TTLL5 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS143920236 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases
RS143920565 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL11A2-related disorder
RS1439207088 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS143920945 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1439211546 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, 7 conditions
RS143922069 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3
RS1439223724 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS1439234327 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS143923730 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS1439242117 EYS Health Risk Pathogenic —
RS143924311 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS1439243114 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1439243449 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS143924605 RTN4IP1 Health Risk Conflicting classifications of pathogenicity —
RS1439248218 ROBO1 Health Risk Pathogenic/Likely pathogenic Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome
RS143924906 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS143925896 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS143925936 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS143926204 SETD1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143926897 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS143927262 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS143927906 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1439284027 LAMC3 Health Risk Likely pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS143928468 FBLN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS1439288458 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS143929015 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS143929343 FRMPD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1439294840 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS143929819 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS143929832 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1439299124 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS143930279 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency
RS143930288 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS143931269 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS143931757 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS143931833 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS143933602 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS143933696 VPS13D Health Risk Conflicting classifications of pathogenicity —
RS143934667 CYP24A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS1439348400 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1439351996 TMC1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS143935839 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS143936434 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS143936463 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
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