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
RS979229015 MED12 Health Risk Likely pathogenic —
RS979237677 PHGDH Health Risk Pathogenic PHGDH deficiency, Inborn genetic diseases
RS979265484 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS979299004 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS979340117 TRAPPC9 Health Risk Pathogenic —
RS979342927 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Bladder exstrophy-epispadias-cloacal extrophy complex
RS979358405 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS979372317 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS979373729 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS979416826 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS979416907 PDE6A Health Risk Pathogenic —
RS979425072 DNAH9 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS979427939 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS979444190 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS979557944 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS979564073 PPFIA3 Health Risk Pathogenic PPFIA3-related disorder, PPFIA3-related disorder
RS979584886 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS979596307 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS979599396 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS9796160 FGF9 Health Risk Conflicting classifications of pathogenicity Multiple synostoses syndrome 3, Multiple synostoses syndrome 3
RS979650971 MAPT Health Risk Conflicting classifications of pathogenicity MAPT-Related Spectrum Disorders, Frontotemporal dementia
RS979660876 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS979690054 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS979727637 GRHPR Health Risk Pathogenic —
RS979727897 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS979729264 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS979738325 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS979762842 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS979787967 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS979865463 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS979879255 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS979916916 RNF125 Health Risk Conflicting classifications of pathogenicity RNF125-related disorder, Inborn genetic diseases
RS979934112 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS980007216 GPR179 Health Risk Pathogenic —
RS980024399 EP300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS980038551 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS980041568 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS980047540 FECH Health Risk Pathogenic —
RS980051423 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS980055405 CA4 Health Risk Likely pathogenic —
RS980089360 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS980098360 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS980127539 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS980156920 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS980185244 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS980193170 CLPP Health Risk Conflicting classifications of pathogenicity Perrault syndrome 3, Perrault syndrome 3
RS980201415 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS980244810 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome
RS980247902 IRF6 Health Risk Pathogenic Van der Woude syndrome, Popliteal pterygium syndrome
RS980278365 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS980305935 CC2D2A Health Risk Pathogenic Encephalocele, Polycystic kidney disease
RS980412081 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS980415517 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS980430860 EYS Health Risk Pathogenic Abnormality of the eye, Retinitis pigmentosa 25
RS980444912 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS980458021 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS980459888 SZT2 Health Risk Pathogenic —
RS980463746 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS980467681 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS980486322 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS980507386 POP1 Health Risk Pathogenic —
RS980540915 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS980603321 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS980618644 SLC45A2 Health Risk Likely pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS980641322 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS980651269 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS980656132 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS980695424 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS980704771 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS980726718 SLC22A12 Health Risk Likely pathogenic —
RS980755584 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS980793349 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS980793433 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS980844308 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS980859921 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS980876322 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS980878522 SLC1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 41
RS980884830 OBSCN Health Risk Pathogenic —
RS980885552 KEL Health Risk association Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
RS980887204 SKIC3 Health Risk Likely pathogenic —
RS980904190 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS9809219 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS980935587 ADGRV1 Health Risk Pathogenic —
RS980941417 ECHS1 Health Risk Likely pathogenic —
RS980964237 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS980972703 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS980996312 RARS2 Health Risk Pathogenic —
RS981025037 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS981039302 KLHL7 Health Risk Pathogenic —
RS981049067 SDHC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS981055703 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS981077333 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Wilms tumor 1
RS981093917 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS981095457 PAPSS2 Health Risk Pathogenic/Likely pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS981099037 EVC2 Health Risk Pathogenic/Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS981113016 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS981126461 GJA3 Health Risk Pathogenic/Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS981210817 CNOT9 Health Risk Pathogenic CNOT9-associated neurodevelopmental disorder, See cases
RS981239453 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS981267400 DNAH5 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Primary ciliary dyskinesia
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