SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1057524890 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Wolfram syndrome 1
RS1057524896 BSCL2 Health Risk Pathogenic/Likely pathogenic Monogenic diabetes, Severe neurodegenerative syndrome with lipodystrophy
RS1057524898 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1057524900 GCK Health Risk Likely pathogenic Monogenic diabetes, Microcephaly
RS1057524901 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS1057524902 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS1057524903 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS1057524904 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS1057524905 GCK Health Risk Pathogenic/Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS1057524906 GCK Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS1057524907 INS Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Maturity-onset diabetes of the young type 10
RS1057524908 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1057524909 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1057524910 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057524912 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS1057524914 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1057524915 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1057524916 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1057524917 KREMEN1 Health Risk Pathogenic Ectodermal dysplasia 13, hair/tooth type
RS10578999 TMIE Health Risk Conflicting classifications of pathogenicity TMIE-related disorder, TMIE-related disorder
RS1057942 GBA1 Health Risk Conflicting classifications of pathogenicity 7 conditions, Parkinson disease
RS10580462 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1058635 RDH5 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Pigmentary retinal dystrophy
RS1058861 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, IL10RB-related disorder
RS1059145 TUBB Health Risk Likely pathogenic —
RS10591869 PPP2R2B Health Risk Conflicting classifications of pathogenicity PPP2R2B-related disorder, PPP2R2B-related disorder
RS10594016 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS1060499524 SPART Health Risk Pathogenic Troyer syndrome, SPART-related disorder
RS1060499526 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS1060499527 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS1060499528 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS1060499532 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1060499534 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1060499535 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1060499536 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS1060499537 KCNT2 Health Risk Pathogenic KCNT2-related disorder, Developmental and epileptic encephalopathy
RS1060499539 ENAM Health Risk Pathogenic/Likely pathogenic Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local
RS1060499540 PDGFRB Health Risk Pathogenic Infantile myofibromatosis, Infantile myofibromatosis
RS1060499541 PDGFRB Health Risk Pathogenic Infantile myofibromatosis, Infantile myofibromatosis
RS1060499542 PDGFRB Health Risk Conflicting classifications of pathogenicity Infantile myofibromatosis, Inborn genetic diseases
RS1060499543 PDGFRB Health Risk Pathogenic Infantile myofibromatosis, Infantile myofibromatosis
RS1060499544 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1060499545 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1060499547 ABL1 Health Risk Pathogenic/Likely pathogenic Failure to thrive, Congenital heart disease
RS1060499548 ABL1 Health Risk Pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart disease
RS1060499549 ZNF462 Health Risk Pathogenic Intellectual disability, autosomal dominant
RS1060499550 ZNF462 Health Risk Pathogenic Intellectual disability, autosomal dominant
RS1060499551 ZNF462 Health Risk Pathogenic Intellectual disability, autosomal dominant
RS1060499552 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1060499553 GABRA1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 19
RS1060499554 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1060499555 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS1060499556 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS1060499557 CPAP Health Risk Pathogenic Seckel syndrome 5, Seckel syndrome 5
RS1060499558 GLI3 Health Risk Pathogenic Polydactyly, postaxial
RS1060499560 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1060499562 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1060499563 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1060499564 ZIC2 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1060499566 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1060499576 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 3
RS1060499579 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1060499581 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1060499582 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS1060499583 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS1060499587 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS1060499588 WNT10A Health Risk Likely pathogenic Schöpf-Schulz-Passarge syndrome, Tooth agenesis
RS1060499590 SMPX Health Risk Likely pathogenic Hearing loss, X-linked 4
RS1060499592 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1060499593 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1060499595 SIX1 Health Risk Likely pathogenic Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
RS1060499596 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1060499598 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1060499602 ASXL3 Health Risk Pathogenic/Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Intellectual disability
RS1060499603 EYA1 Health Risk Likely pathogenic Branchiootic syndrome 1, Otofaciocervical syndrome 1
RS1060499604 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
RS1060499606 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1060499607 KCNB1 Health Risk Likely pathogenic —
RS1060499609 RASGRP2 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18
RS1060499610 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1060499612 SLC25A13 Health Risk Likely pathogenic Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency
RS1060499616 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Inherited bleeding disorder
RS1060499618 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1060499619 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Early-onset Parkinson disease 20
RS1060499620 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1060499621 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1060499624 RANBP2 Health Risk Likely pathogenic Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS1060499625 PIGA Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS1060499626 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS1060499627 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060499629 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS1060499630 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Uterine leiomyoma
RS1060499631 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1060499633 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1060499634 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1060499635 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS1060499636 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS1060499637 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1060499638 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS1060499639 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
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