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
RS2091446343 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091448566 SLC6A8 Health Risk Pathogenic —
RS2091449037 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2091450305 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091453268 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091455005 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2091458828 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2091466607 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2091467397 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2091467425 SLC6A8 Health Risk Likely pathogenic —
RS2091467454 SLC6A8 Health Risk Likely pathogenic —
RS2091467532 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2091469248 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2091472604 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091473708 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS2091473920 SLC6A8 Health Risk Pathogenic —
RS2091474187 SLC6A8 Health Risk Pathogenic —
RS2091474513 MOCOS Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS2091474617 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Thyroid cancer
RS2091475296 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2091475541 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091475604 PKD1 Health Risk Likely pathogenic Inborn genetic diseases, Polycystic kidney disease
RS2091475771 SLC6A8 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2091477188 SLC6A8 Health Risk Conflicting classifications of pathogenicity Creatine transporter deficiency, Creatine transporter deficiency
RS2091478800 SLC6A8 Health Risk Conflicting classifications of pathogenicity Creatine transporter deficiency, Creatine transporter deficiency
RS2091483332 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091489920 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS2091491322 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2091493090 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091493781 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2091498706 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091500917 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091501415 ARFGEF2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2091504320 DEPDC5 Health Risk Likely pathogenic —
RS2091527104 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2091529784 ARFGEF2 Health Risk Likely pathogenic Periventricular heterotopia with microcephaly, autosomal recessive
RS2091532104 RAD51D Health Risk Likely pathogenic Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome
RS2091532238 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2091536198 RAD51D Health Risk Pathogenic Gastric cancer, Hereditary cancer-predisposing syndrome
RS2091537662 ARFGEF2 Health Risk Likely pathogenic Periventricular laminar heterotopia, Periventricular laminar heterotopia
RS2091561681 RAD51D Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2091564839 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2091565327 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2091571271 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2091571329 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2091571469 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS2091572700 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091576236 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091577195 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2091579496 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2091580237 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091580617 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2091594113 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2091600536 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091601824 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091602155 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2091602962 RAD51D Health Risk Pathogenic Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome
RS2091603173 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2091604825 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS2091605445 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2091605461 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2091612821 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2091614437 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091614664 RAD51D Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2091615030 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2091615360 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2091616873 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2091618553 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2091618729 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2091618795 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2091618928 PKD1 Health Risk Pathogenic —
RS2091619053 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091619119 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2091620545 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2091620571 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2091620612 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2091620763 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091622013 RAD51D Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2091642103 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091643419 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2091645594 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2091645809 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2091646317 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2091657024 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2091668243 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091670117 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2091672168 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2091682680 ADARB1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, microcephaly
RS2091702389 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2091702447 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2091703332 ABCD1 Health Risk Pathogenic —
RS2091704834 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2091705296 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2091705631 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS2091705970 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2091706289 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2091706456 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2091706547 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Inborn genetic diseases
RS2091707324 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS2091707458 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
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