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
RS2527832764 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527833201 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527833277 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527833447 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2527833719 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527834566 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527834624 LMNA Health Risk Likely pathogenic Sick sinus syndrome, Sick sinus syndrome
RS2527834799 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2527835305 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527835731 USH2A Health Risk Pathogenic —
RS2527835812 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527835876 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2527835936 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527838026 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2527838259 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2527838316 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2527838437 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2527838648 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2527839053 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2527840110 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2527842814 LBR Health Risk Pathogenic —
RS2527844947 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527854627 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2527857747 GJC2 Health Risk Pathogenic Spastic paraplegia, Lymphatic malformation 3
RS2527875152 GJC2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2527875494 GJC2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2527875902 GJC2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2527876961 GJC2 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 2, Spastic paraplegia
RS2527877227 GJC2 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS2527880529 WDR35 Health Risk Likely pathogenic WDR35-related disorder, WDR35-related disorder
RS2527880578 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527880646 HNRNPU Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2527880675 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527882185 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527882862 WDR35 Health Risk Pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS2527884093 SLC30A10 Health Risk Likely pathogenic Hypermanganesemia with dystonia, polycythemia
RS2527885160 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527885321 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2527886589 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527888341 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527888357 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527889197 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2527889928 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2527890301 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2527890315 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527890422 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527890446 HNRNPU Health Risk Pathogenic Seizure, Seizure
RS2527893248 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2527894074 HNRNPU Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2527894182 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527894355 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527894841 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527894863 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2527895152 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS2527895328 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527895448 HNRNPU Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527895727 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527895995 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527896284 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527896376 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2527899567 IBA57 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS2527901415 IBA57 Health Risk Likely pathogenic —
RS2527901443 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS2527903495 WDR35 Health Risk Pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS2527905126 NBAS Health Risk Likely pathogenic See cases, See cases
RS2527909396 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2527910800 NCF2 Health Risk Pathogenic Chronic granulomatous disease, Granulomatous disease
RS2527911236 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2527911315 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2527918499 KIDINS220 Health Risk Likely pathogenic —
RS2527921101 IBA57 Health Risk Conflicting classifications of pathogenicity C1orf69/IBA57-related disorder, Multiple mitochondrial dysfunctions syndrome 3
RS2527924310 MYCN Health Risk Conflicting classifications of pathogenicity MYCN-related disorder, Megalencephaly-polydactyly syndrome
RS2527924479 WDR35 Health Risk Likely pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS2527925277 MYCN Health Risk Likely pathogenic MYCN-related disorder, MYCN-related disorder
RS2527925425 MYCN Health Risk Likely pathogenic —
RS2527925514 MYCN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527925687 MYCN Health Risk Pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS2527926022 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527927539 MYCN Health Risk Pathogenic/Likely pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS2527927639 MYCN Health Risk Likely pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS2527928565 MYCN Health Risk Likely pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS2527930575 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2527930725 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS2527935561 NBAS Health Risk Likely pathogenic —
RS2527935805 LMNA Health Risk Pathogenic Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS2527936127 LMNA Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2527936480 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527936786 MYCN Health Risk Likely pathogenic MYCN-related disorder, MYCN-related disorder
RS2527936871 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2527936976 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS2527936984 MYCN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527937180 LMNA Health Risk Likely pathogenic Congenital muscular dystrophy due to LMNA mutation, Congenital muscular dystrophy due to LMNA mutation
RS2527937650 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527938178 NBAS Health Risk Likely pathogenic —
RS2527938548 NBAS Health Risk Pathogenic —
RS2527938896 MYCN Health Risk Likely pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS2527938946 MYCN Health Risk Likely pathogenic —
RS2527939511 NBAS Health Risk Pathogenic —
RS2527946248 NCF2 Health Risk Pathogenic Chronic granulomatous disease, Chronic granulomatous disease
RS2527949922 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
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