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
RS1286156977 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS1286176571 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1286181726 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1286192889 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS1286193203 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS128620183 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia, Autosomal recessive agammaglobulinemia 1
RS128620184 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128620185 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia, Autosomal recessive agammaglobulinemia 1
RS128620186 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS128620187 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS128620188 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia, Inherited Immunodeficiency Diseases
RS128620189 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621190 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621191 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621192 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS128621193 BTK Health Risk Pathogenic X-linked agammaglobulinemia, Autosomal recessive agammaglobulinemia 1
RS128621194 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS128621195 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621196 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621197 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS128621198 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621199 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621201 BTK Health Risk Pathogenic X-linked agammaglobulinemia, Autosomal recessive agammaglobulinemia 1
RS128621202 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS128621203 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS128621204 BTK Health Risk Pathogenic X-linked agammaglobulinemia, Autosomal recessive agammaglobulinemia 1
RS128621205 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621206 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621207 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS128621208 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621209 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128621210 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1286213872 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS128622211 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128622212 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS128624213 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS128624214 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS128624215 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS128624216 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS128624217 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS128624218 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, X-linked spondyloepimetaphyseal dysplasia
RS128624219 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS128624220 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS128624221 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, ABCD1-related disorder
RS128624222 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS128624223 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS128624224 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, X-linked spondyloepimetaphyseal dysplasia
RS128624225 ABCD1 Health Risk Pathogenic Primary adrenocortical insufficiency, Adrenoleukodystrophy
RS1286247510 SYNJ1 Health Risk Likely pathogenic Early-onset Parkinson disease 20, Early-onset Parkinson disease 20
RS128625226 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128625227 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128625228 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128625229 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiomyopathy
RS128625230 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1286260102 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Noonan syndrome 9
RS128626231 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626232 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626233 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dystrophin deficiency
RS128626234 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626235 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS128626237 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS128626238 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626239 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626240 DMD Health Risk Pathogenic Intermediate muscular dystrophy, Duchenne muscular dystrophy
RS128626241 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS128626242 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626243 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626244 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626245 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626246 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626247 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626248 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626249 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiovascular phenotype
RS128626250 DMD Health Risk Pathogenic Duchenne muscular dystrophy, X-linked DMD-related disorders
RS128626251 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626252 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128626253 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS128626254 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS128627256 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS128627257 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1286278528 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1286283864 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1286287151 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1286289900 ABCA12 Health Risk Conflicting classifications of pathogenicity —
RS1286294151 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1286303912 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1286309175 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1286331975 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1286340820 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1286347776 HESX1 Health Risk Likely pathogenic —
RS1286353775 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1286357227 PHKA2 Health Risk Pathogenic —
RS1286364615 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1286367946 C8A Health Risk Pathogenic/Likely pathogenic Type I complement component 8 deficiency, Type I complement component 8 deficiency
RS1286401716 BLM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1286402535 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1286421874 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1286430947 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Inborn genetic diseases
RS1286460200 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1286462906 CTLA4 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
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