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
RS2474393026 HMX1 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS2474395788 OPA1 Health Risk Likely pathogenic Optic atrophy, Optic atrophy
RS2474395815 OPA1 Health Risk Pathogenic —
RS2474424005 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474424607 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474462219 NKX3-2 Health Risk Pathogenic —
RS2474501996 CRYGS Health Risk Likely pathogenic —
RS2474506697 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474507123 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474507433 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474507585 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2474508277 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474508727 EVC Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474512303 NSD2 Health Risk Likely pathogenic —
RS2474526523 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2474556395 DNAJB11 Health Risk Pathogenic Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
RS2474564027 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS2474564704 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474564821 DNAJB11 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2474566006 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474572635 RAB28 Health Risk Pathogenic —
RS2474574768 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS2474575339 OPA1 Health Risk Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS2474576152 OPA1 Health Risk Pathogenic —
RS2474576413 OPA1 Health Risk Pathogenic —
RS2474576556 DNAJB11 Health Risk Likely pathogenic Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
RS2474576718 OPA1 Health Risk Likely pathogenic OPA1-related disorder, OPA1-related disorder
RS2474576878 OPA1 Health Risk Pathogenic —
RS2474578114 DNAJB11 Health Risk Likely pathogenic Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
RS2474578222 OPA1 Health Risk Pathogenic OPA1-related disorder, OPA1-related disorder
RS2474580332 PIGG Health Risk Likely pathogenic —
RS2474584542 OPA1;OPA1-AS1 Health Risk Pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS2474585323 OPA1 Health Risk Pathogenic —
RS2474589841 TP63 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2474589927 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2474589968 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2474590664 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2474592385 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2474592669 RAB28 Health Risk Likely pathogenic Cone dystrophy, Cone dystrophy
RS2474598449 OPA1-AS1;OPA1 Health Risk Pathogenic Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS2474599159 OPA1 Health Risk Pathogenic/Likely pathogenic OPA1-related disorder, OPA1-related disorder
RS2474599506 OPA1 Health Risk Likely pathogenic —
RS2474608949 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474609100 TP63 Health Risk Likely pathogenic Ectrodactyly, ectodermal dysplasia
RS2474609177 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2474609185 TP63 Health Risk Likely pathogenic —
RS2474609250 TP63 Health Risk Likely pathogenic TP63-related disorder, TP63-related disorder
RS2474611174 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474613656 TP63 Health Risk Pathogenic —
RS2474621465 NSD2 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474621918 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474622067 NSD2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2474624136 SEPSECS Health Risk Pathogenic —
RS2474624385 SEPSECS Health Risk Pathogenic —
RS2474632246 SEPSECS Health Risk Pathogenic —
RS2474632359 SEPSECS Health Risk Pathogenic —
RS2474633301 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474635268 TP63 Health Risk Likely pathogenic Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
RS2474638543 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474641210 PIGG Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2474656264 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2474656314 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474656670 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2474658353 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2474659952 SEPSECS Health Risk Likely pathogenic —
RS2474660058 SEPSECS Health Risk Pathogenic —
RS2474660081 SEPSECS Health Risk Pathogenic —
RS2474660169 SEPSECS Health Risk Pathogenic —
RS2474660936 SEPSECS Health Risk Pathogenic —
RS2474666866 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474669849 NSD2 Health Risk Pathogenic —
RS2474671527 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2474672497 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474673178 SEPSECS Health Risk Pathogenic —
RS2474673222 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474673801 EVC Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474675079 QDPR Health Risk Pathogenic/Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2474678090 SEPSECS Health Risk Pathogenic —
RS2474678156 SEPSECS Health Risk Pathogenic —
RS2474680293 SEPSECS Health Risk Pathogenic —
RS2474680377 SEPSECS Health Risk Pathogenic —
RS2474680455 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2474680524 SEPSECS Health Risk Pathogenic —
RS2474680639 SEPSECS Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS2474683044 SEPSECS Health Risk Pathogenic —
RS2474684351 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2474687235 SEPSECS Health Risk Pathogenic —
RS2474687418 SEPSECS Health Risk Pathogenic —
RS2474687422 SEPSECS Health Risk Pathogenic —
RS2474687748 SEPSECS Health Risk Pathogenic —
RS2474711823 TTN Health Risk Likely pathogenic Centronuclear myopathy, Centronuclear myopathy
RS2474713494 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, Inborn genetic diseases
RS2474713721 TP63 Health Risk Pathogenic Premature ovarian failure 21, Premature ovarian failure 21
RS2474713823 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2474714315 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS2474716743 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474716865 EVC Health Risk Likely pathogenic —
RS2474716928 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474717066 EVC Health Risk Pathogenic/Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2474718308 COL4A4 Health Risk Pathogenic —
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