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
RS2533812482 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533812629 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Classic or attenuated familial adenomatous polyposis
RS2533812777 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, See cases
RS2533813575 APC Health Risk Likely pathogenic Familial multiple polyposis syndrome, Familial multiple polyposis syndrome
RS2533814625 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533814675 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533815333 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533817849 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533819057 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533819466 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2533819573 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2533819887 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533819947 CTNNA1 Health Risk Pathogenic —
RS2533820112 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2533820847 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533821037 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533821748 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533822409 CTNNA1 Health Risk Pathogenic —
RS2533822595 CTNNA1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2533823407 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533824071 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533824812 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533825688 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533826606 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533826804 DST Health Risk Pathogenic —
RS2533827355 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533827496 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533829235 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533830101 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533830317 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533830769 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533831117 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533832057 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533832977 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533833667 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533834113 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533834965 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533838474 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533838873 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533842147 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533842417 DSP Health Risk Likely pathogenic DSP-related disorder, DSP-related disorder
RS2533842444 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533842462 DSP Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533845770 ACTB Health Risk Pathogenic ACTB-associated syndromic thrombocytopenia, ACTB-associated syndromic thrombocytopenia
RS2533845848 ACTB Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2533845857 ACTB Health Risk Likely pathogenic Developmental malformations-deafness-dystonia syndrome, Developmental malformations-deafness-dystonia syndrome
RS2533845983 ACTB Health Risk Pathogenic ACTB-associated syndromic thrombocytopenia, ACTB-associated syndromic thrombocytopenia
RS2533846008 ACTB Health Risk Likely pathogenic ACTB-related disorder, ACTB-related disorder
RS2533846013 ACTB Health Risk Pathogenic ACTB-associated syndromic thrombocytopenia, ACTB-associated syndromic thrombocytopenia
RS2533846592 ACTB Health Risk Pathogenic —
RS2533846782 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS2533847233 CTNNA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS2533847578 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS2533847765 ACTB Health Risk Pathogenic/Likely pathogenic Baraitser-Winter syndrome 1, ACTB-associated syndromic thrombocytopenia
RS2533847905 ACTB Health Risk Likely pathogenic —
RS2533847974 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2533848058 ACTB Health Risk Pathogenic —
RS2533848206 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533848937 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533849573 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533849722 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533849798 DSP Health Risk Likely pathogenic Cardiomyopathy, dilated
RS2533849972 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS2533851357 ACTB Health Risk Likely pathogenic ACTB-related disorder, ACTB-related disorder
RS2533852303 APC Health Risk Conflicting classifications of pathogenicity Classic or attenuated familial adenomatous polyposis, Familial adenomatous polyposis 1
RS2533853059 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533853693 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533853924 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533853985 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533857932 WDFY3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2533858938 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533860179 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533861394 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533862916 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533863740 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533866906 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533867187 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533867343 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533872047 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2533872220 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533872416 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533872696 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
RS2533872937 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533876378 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533876551 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533879486 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533880032 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533881912 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533881951 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533882036 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533884515 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533886766 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533886847 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533886914 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533887412 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533890060 PDE10A Health Risk Likely pathogenic —
RS2533890196 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533890304 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533890664 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533890784 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
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