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
RS1057521562 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1057521565 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1057521576 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS1057521589 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS1057521592 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1057521598 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1057521601 AVP Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, Neurohypophyseal diabetes insipidus
RS1057521603 DDX3X Health Risk Likely pathogenic Medulloblastoma WNT activated, Medulloblastoma WNT activated
RS1057521607 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057521630 ATP1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 98, Developmental and epileptic encephalopathy 98
RS1057521632 SLC2A1 Health Risk Likely pathogenic —
RS1057521634 SLC38A8 Health Risk Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS1057521640 ABCC9 Health Risk Likely pathogenic —
RS1057521642 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS1057521648 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1057521655 EEF1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 33
RS1057521657 IQSEC2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS1057521660 SMAD4 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1057521662 SCN8A Health Risk Pathogenic COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA, Complex neurodevelopmental disorder
RS1057521663 SMC3 Health Risk Likely pathogenic —
RS1057521666 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057521667 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057521671 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1057521675 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1057521676 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057521679 LONP1 Health Risk Likely pathogenic —
RS1057521693 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1057521706 CACNA1A Health Risk Conflicting classifications of pathogenicity —
RS1057521714 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1057521717 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1057521718 PTDSS1 Health Risk Likely pathogenic —
RS1057521719 SYNE1 Health Risk Likely pathogenic —
RS1057521721 GRIA3 Health Risk Pathogenic Disrupted sleep-wake cycle with developmental delay and learning difficulty, Syndromic X-linked intellectual disability 94
RS1057521722 HUWE1 Health Risk Likely pathogenic —
RS1057521724 MYCN Health Risk Likely pathogenic —
RS1057521725 RBFOX1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Inborn genetic diseases
RS1057521726 ANTXR2 Health Risk Likely pathogenic —
RS1057521727 SLC39A8 Health Risk Likely pathogenic —
RS1057521729 GRIA3 Health Risk Likely pathogenic GRIA3-related disorder, GRIA3-related disorder
RS1057521730 HUWE1 Health Risk Likely pathogenic —
RS1057521734 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057521735 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1057521737 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1057521741 TGFB1 Health Risk Likely pathogenic —
RS1057521742 OCRL Health Risk Likely pathogenic Dent disease type 2, Dent disease type 2
RS1057521746 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1057521747 SCN2A Health Risk Likely pathogenic Inborn genetic diseases, Complex neurodevelopmental disorder
RS1057521750 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1057521754 CASK Health Risk Likely pathogenic —
RS1057521756 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS1057521760 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1057521767 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1057521769 NEB Health Risk Conflicting classifications of pathogenicity —
RS1057521783 FOXG1 Health Risk Likely pathogenic —
RS1057521784 AP4M1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1057521785 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS1057521790 COX20 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 11
RS1057521791 HUWE1 Health Risk Likely pathogenic —
RS1057521793 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Brugada syndrome 9
RS1057521795 ADSL Health Risk Likely pathogenic —
RS1057521796 HUWE1 Health Risk Likely pathogenic —
RS1057521798 NRXN1 Health Risk Likely pathogenic —
RS1057521800 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1057521801 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1057521806 CDKL5 Health Risk Likely pathogenic —
RS1057521810 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1057521812 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1057521813 SYNE1 Health Risk Likely pathogenic —
RS1057521814 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1057521819 BMPR1B Health Risk Likely pathogenic —
RS1057521820 ABCC9 Health Risk Likely pathogenic —
RS1057521823 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1057521835 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1057521841 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1057521843 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1057521847 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1057521848 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1057521851 CALM1 Health Risk Likely pathogenic —
RS1057521852 COL2A1 Health Risk Likely pathogenic —
RS1057521854 ARID1B Health Risk Likely pathogenic —
RS1057521855 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1057521857 NOTCH1 Health Risk Likely pathogenic —
RS1057521859 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057521863 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057521874 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057521882 CTNNB1 Health Risk Conflicting classifications of pathogenicity —
RS1057521887 KCNB1 Health Risk Likely pathogenic —
RS1057521912 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, ATM-related disorder
RS1057521913 METTL23 Health Risk Pathogenic —
RS1057521918 TUBB2A Health Risk Likely pathogenic —
RS1057521920 CACNA1A Health Risk Conflicting classifications of pathogenicity CACNA1A-related disorder, Developmental and epileptic encephalopathy
RS1057521921 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1057521922 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS1057521924 TUBB3 Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Abnormal cerebral morphology
RS1057521927 PRUNE1 Health Risk Pathogenic/Likely pathogenic Abnormal brain morphology, Neurodevelopmental disorder with microcephaly
RS1057521929 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057521930 COL3A1 Health Risk Likely pathogenic Familial aortopathy, Familial aortopathy
RS1057521933 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS1057521937 CYBB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057521946 TTN Health Risk Likely pathogenic —
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