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
RS2531335997 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531337541 COL7A1 Health Risk Likely pathogenic COL7A1-related disorder, COL7A1-related disorder
RS2531338234 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
RS2531338258 RASA1 Health Risk Likely pathogenic RASA1-related disorder, RASA1-related disorder
RS2531339000 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Vascular malformation
RS2531339089 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531341953 RASA1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2531342060 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531342144 RASA1 Health Risk Likely pathogenic Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
RS2531344354 COL7A1 Health Risk Pathogenic —
RS2531344417 COL7A1 Health Risk Likely pathogenic —
RS2531345873 COL7A1 Health Risk Likely pathogenic —
RS2531347318 COL7A1 Health Risk Pathogenic —
RS2531347369 COL7A1 Health Risk Pathogenic —
RS2531347823 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531348163 COL7A1 Health Risk Likely pathogenic —
RS2531350017 RASA1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2531350156 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531351123 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, Epidermolysis bullosa dystrophica
RS2531355164 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531355519 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS2531359738 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531359826 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531360007 RASA1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2531362827 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531362861 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531363692 COL7A1 Health Risk Pathogenic —
RS2531364797 ADGRV1 Health Risk Pathogenic —
RS2531365245 COL7A1 Health Risk Pathogenic —
RS2531365389 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS2531366088 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531366212 ADGRV1 Health Risk Pathogenic —
RS2531366507 COL7A1 Health Risk Pathogenic —
RS2531367728 ADGRV1 Health Risk Pathogenic —
RS2531369305 ADGRV1 Health Risk Pathogenic —
RS2531373838 RASA1 Health Risk Pathogenic/Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
RS2531373996 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531375175 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2531378919 COL7A1 Health Risk Pathogenic —
RS2531378940 COL7A1 Health Risk Pathogenic —
RS2531380191 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531381385 ADGRV1 Health Risk Likely pathogenic —
RS2531393831 KIF2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2531395817 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531395894 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531396047 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531396312 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531404825 RASA1 Health Risk Likely pathogenic RASA1-related disorder, RASA1-related disorder
RS2531404919 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531429983 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2531442889 UQCRC1 Health Risk Likely pathogenic Parkinsonism with polyneuropathy, Parkinsonism with polyneuropathy
RS2531458645 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2531459837 PCSK1 Health Risk Pathogenic Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS2531471911 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531471980 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531472105 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531482062 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS2531485722 SMARCA5 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2531495848 OBSCN Health Risk Likely pathogenic Rhabdomyolysis, susceptibility to
RS2531495892 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531496314 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531497410 SMARCA5 Health Risk Pathogenic Short stature, Failure to thrive
RS2531503998 ADGRV1 Health Risk Pathogenic —
RS2531504282 ADGRV1 Health Risk Pathogenic —
RS2531504436 ADGRV1 Health Risk Pathogenic —
RS2531505680 PCSK1 Health Risk Pathogenic/Likely pathogenic Obesity due to prohormone convertase I deficiency, Body mass index quantitative trait locus 12
RS2531511686 SMARCA5 Health Risk Pathogenic Pes planus, Delayed CNS myelination
RS2531513538 PCSK1 Health Risk Likely pathogenic Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS2531516441 OBSCN Health Risk Pathogenic —
RS2531530527 CWC27 Health Risk Likely pathogenic —
RS2531537816 ADGRV1 Health Risk Pathogenic —
RS2531538042 ADGRV1 Health Risk Pathogenic —
RS2531540473 ADGRV1 Health Risk Pathogenic —
RS2531540640 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2531540786 ADGRV1 Health Risk Pathogenic —
RS2531541261 ATP2C1 Health Risk Likely pathogenic Familial benign pemphigus, Familial benign pemphigus
RS2531541423 ATP2C1 Health Risk Likely pathogenic Familial benign pemphigus, Familial benign pemphigus
RS2531546547 ADGRV1 Health Risk Pathogenic —
RS2531547578 ADGRV1 Health Risk Pathogenic —
RS2531547862 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2531547976 ADGRV1 Health Risk Pathogenic —
RS2531570514 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2531574631 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS2531575367 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2531575374 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2531580019 OBSCN Health Risk risk factor Rhabdomyolysis, susceptibility to
RS2531580325 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2531580353 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2531583251 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2531583528 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2531584092 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2531588221 PROM1 Health Risk Pathogenic —
RS2531598967 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531599204 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531599262 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531599299 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531599625 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531609463 HSD17B4 Health Risk Pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS2531609485 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531609558 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
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