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
RS1057520292 IKBKG Health Risk Likely pathogenic —
RS1057520293 IL2RG Health Risk Likely pathogenic —
RS1057520297 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
RS1057520298 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, ZC4H2-related X-linked intellectual disability
RS1057520299 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
RS1057520300 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS1057520301 SLC12A1 Health Risk Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS1057520302 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS1057520303 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS1057520304 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Inborn genetic diseases
RS1057520306 TUBB8 Health Risk Pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1057520307 TUBB8 Health Risk Pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS1057520312 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1057520316 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1057520319 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057520326 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1057520329 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1057520333 NDP Health Risk Likely pathogenic —
RS1057520338 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1057520339 NSD1 Health Risk Pathogenic Acute myeloid leukemia, Sotos syndrome
RS1057520344 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1057520345 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1057520347 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS1057520352 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS1057520353 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart
RS1057520361 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1057520366 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, Hereditary angioedema type 1
RS1057520367 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1057520369 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1057520375 SMC1A Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1057520377 STAT3 Health Risk Likely pathogenic —
RS1057520379 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1057520382 TANGO2 Health Risk Likely pathogenic —
RS1057520384 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1057520391 TUBB2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TUBB2B-related disorder
RS1057520398 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1057520406 NRXN1 Health Risk Likely pathogenic —
RS1057520412 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1057520413 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1057520417 TNNI3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 2A, Cardiomyopathy
RS1057520433 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057520444 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1057520447 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1057520468 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1057520476 GABRG2 Health Risk Likely pathogenic —
RS1057520477 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1057520486 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1057520487 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1057520498 GABRG2 Health Risk Pathogenic Febrile seizures, familial
RS1057520504 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1057520507 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057520508 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1057520512 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057520515 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1057520517 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057520520 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS1057520525 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1057520528 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1057520529 FOXP3 Health Risk Pathogenic/Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, FOXP3-related disorder
RS1057520530 COL7A1 Health Risk Pathogenic/Likely pathogenic —
RS1057520531 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome 3, Brugada syndrome 1
RS1057520533 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1057520535 EXT1 Health Risk Pathogenic —
RS1057520536 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1057520537 MOGS Health Risk Pathogenic —
RS1057520538 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS1057520539 KITLG Health Risk Pathogenic Hyperpigmentation with or without hypopigmentation, familial progressive
RS1057520540 RPS6KA3 Health Risk Pathogenic —
RS1057520542 AICDA Health Risk Pathogenic Hyper-IgM syndrome type 2, AICDA-related disorder
RS1057520543 RSPH9 Health Risk Pathogenic —
RS1057520544 STXBP1 Health Risk Pathogenic —
RS1057520545 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1057520548 RS1 Health Risk Pathogenic —
RS1057520549 CNTNAP2 Health Risk Pathogenic —
RS1057520551 PAX6 Health Risk Pathogenic —
RS1057520552 SYNE1 Health Risk Pathogenic —
RS1057520556 CTNNB1 Health Risk Pathogenic —
RS1057520557 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS1057520558 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1057520559 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1057520561 TECTA Health Risk Pathogenic —
RS1057520562 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1057520565 ANKRD11 Health Risk Pathogenic —
RS1057520566 COL7A1 Health Risk Pathogenic —
RS1057520567 COL7A1 Health Risk Pathogenic —
RS1057520568 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS1057520569 IRF6 Health Risk Pathogenic —
RS1057520571 CLN6 Health Risk Likely pathogenic —
RS1057520573 KMT2D Health Risk Pathogenic —
RS1057520574 TUBA1A Health Risk Pathogenic/Likely pathogenic Tubulinopathy, Tubulinopathy
RS1057520575 NF1 Health Risk Pathogenic —
RS1057520576 PDGFB Health Risk Pathogenic —
RS1057520577 ATP2A2 Health Risk Pathogenic —
RS1057520578 BTK Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1057520579 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS1057520580 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057520581 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1057520582 PHEX Health Risk Pathogenic Thyroid cancer, nonmedullary
RS1057520583 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS1057520584 MEF2C Health Risk Pathogenic —
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