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
RS2521167101 GRIA3 Health Risk Likely pathogenic Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS2521169015 GRIA3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2521173320 GRIA3 Health Risk Likely pathogenic Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS2521177673 ACSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2521178978 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS2521179205 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521182259 SLC9A6 Health Risk Likely pathogenic Christianson syndrome, Christianson syndrome
RS2521197429 CUL4B Health Risk Pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS2521198322 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521198629 CUL4B Health Risk Pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS2521199896 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521200386 CUL4B Health Risk Likely pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS2521203628 BGN Health Risk Likely pathogenic Meester-Loeys syndrome, Meester-Loeys syndrome
RS2521208825 GRIA3 Health Risk Pathogenic —
RS2521210921 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2521213669 HDAC8 Health Risk Pathogenic Inborn genetic diseases, Cornelia de Lange syndrome 5
RS2521213722 BGN Health Risk Likely pathogenic —
RS2521216920 AMER1 Health Risk Likely pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS2521219168 BGN Health Risk Likely pathogenic Meester-Loeys syndrome, Meester-Loeys syndrome
RS2521219756 SLC9A6 Health Risk Likely pathogenic Christianson syndrome, Christianson syndrome
RS2521221582 AMER1 Health Risk Likely pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS2521223304 AMER1 Health Risk Pathogenic —
RS2521224064 AMER1 Health Risk Pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS2521226623 AMER1 Health Risk Pathogenic —
RS2521227899 BGN Health Risk Likely pathogenic Meester-Loeys syndrome, Meester-Loeys syndrome
RS2521230309 RBM10 Health Risk Likely pathogenic —
RS2521231477 ACSL4 Health Risk Likely pathogenic Intellectual disability, X-linked 63
RS2521233986 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2521237559 GRIA3 Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS2521237636 GRIA3 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2521237702 GRIA3 Health Risk Likely pathogenic Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS2521237781 GRIA3 Health Risk Pathogenic —
RS2521237833 GRIA3 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS2521246350 FHL1 Health Risk Likely pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521247887 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521249838 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2521249957 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521250676 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2521251058 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521251181 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2521253235 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521263548 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521264630 FHL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2521265963 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521266207 FHL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2521274472 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521282912 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521285775 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521286102 FHL1 Health Risk Pathogenic Myopathy, reducing body
RS2521287361 FHL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2521287431 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521288079 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521288550 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521288727 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521289319 MCTS1 Health Risk Pathogenic Immunodeficiency 118, Immunodeficiency 118
RS2521290553 MCTS1 Health Risk Pathogenic Immunodeficiency 118, Immunodeficiency 118
RS2521290612 MCTS1 Health Risk Pathogenic Immunodeficiency 118, Immunodeficiency 118
RS2521292161 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521294004 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521300616 FHL1 Health Risk Likely pathogenic Myopathy, reducing body
RS2521303090 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521310108 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS2521310197 SLC9A6 Health Risk Likely pathogenic Christianson syndrome, Christianson syndrome
RS2521310914 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521317854 PRPS1 Health Risk Likely pathogenic —
RS2521317897 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS2521318388 FOXE3 Health Risk Likely pathogenic FOXE3-related disorder, FOXE3-related disorder
RS2521319607 GALE Health Risk Pathogenic Thrombocytopenia 13, syndromic
RS2521320879 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521321260 NAA10 Health Risk Conflicting classifications of pathogenicity —
RS2521321688 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS2521322039 FOXE3 Health Risk Likely pathogenic —
RS2521323759 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Congenital primary aphakia
RS2521326158 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521326203 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS2521331057 C1GALT1C1 Health Risk Pathogenic Atypical hemolytic-uremic syndrome, Hemolytic uremic syndrome
RS2521331868 C1GALT1C1 Health Risk Likely pathogenic Abnormal protein O-linked glycosylation, Hemolytic uremic syndrome
RS2521331985 GRIA3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2521333666 SLC9A6 Health Risk Likely pathogenic Christianson syndrome, Christianson syndrome
RS2521333744 SLC9A6 Health Risk Likely pathogenic Christianson syndrome, Christianson syndrome
RS2521333750 GRIA3 Health Risk Pathogenic Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS2521333836 GRIA3 Health Risk Likely pathogenic GRIA3-related disorder, GRIA3-related disorder
RS2521335635 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521336101 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521336794 PRPS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Arts syndrome
RS2521336817 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521336988 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521337446 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, Thyroid cancer
RS2521337625 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS2521342044 PRPS1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2521342152 PRPS1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2521345872 PRPS1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2521345889 PRPS1 Health Risk Likely pathogenic Hearing loss, X-linked 1
RS2521349816 PRPS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth disease X-linked recessive 5
RS2521354962 GPC3 Health Risk Likely pathogenic Simpson-Golabi-Behmel syndrome type 1, Nonpapillary renal cell carcinoma
RS2521356554 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2521361687 FMR1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2521364194 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2521380537 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS2521380983 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
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