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
RS1569536789 CCNQ Health Risk Pathogenic Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome
RS1569536891 CCNQ Health Risk Pathogenic Syndactyly-telecanthus-anogenital and renal malformations syndrome, Syndactyly-telecanthus-anogenital and renal malformations syndrome
RS1569537333 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Nonpapillary renal cell carcinoma
RS1569539244 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1569539358 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1569539359 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1569539381 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1569539443 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1569539466 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1569539477 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1569540047 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1569540051 CLCN5 Health Risk Pathogenic —
RS1569540369 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1569540382 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1569540502 CLCN5;LOC126863258 Health Risk Likely pathogenic —
RS1569540520 CLCN5 Health Risk Pathogenic Proteinuria, low molecular weight
RS1569540524 BCAP31 Health Risk Pathogenic —
RS1569540665 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540676 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540680 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540688 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540692 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540693 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540695 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540700 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540703 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540704 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540710 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540711 ABCD1 Health Risk Likely pathogenic ABCD1-related disorder, ABCD1-related disorder
RS1569540731 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540743 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569540883 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569541000 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569541006 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569541007 ABCD1 Health Risk Pathogenic —
RS1569541009 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569541011 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569541035 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, ABCD1-related disorder
RS1569541087 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569541088 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, ABCD1-related disorder
RS1569541093 ABCD1 Health Risk Pathogenic —
RS1569541096 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569541109 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Inborn genetic diseases
RS1569541115 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569541120 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, ABCD1-related disorder
RS1569541198 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569541203 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, ABCD1-related disorder
RS1569541207 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1569541211 FGD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569541255 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS1569542167 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1569544629 L1CAM Health Risk Pathogenic —
RS1569544723 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1569544908 L1CAM Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1569545382 FMR1 Health Risk Pathogenic Fragile X syndrome, Fragile X syndrome
RS1569545523 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS1569545562 FMR1 Health Risk Pathogenic Fragile X syndrome, Fragile X syndrome
RS1569545567 AVPR2 Health Risk Pathogenic —
RS1569545763 FMR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569546174 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569546198 DMD Health Risk Pathogenic Becker muscular dystrophy, Thyroid cancer
RS1569546255 NAA10 Health Risk Pathogenic Ogden syndrome, Ogden syndrome
RS1569546724 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS1569547229 DMD Health Risk Pathogenic —
RS1569547242 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1569547876 MAGT1 Health Risk Pathogenic Congenital disorder of glycosylation, type ICC
RS1569547878 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1569548146 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1569548274 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1569548307 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1569548314 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1569548376 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1569548428 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS1569549376 ATP7A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569549587 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS1569549695 ATP7A Health Risk Pathogenic —
RS1569549699 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS1569549753 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS1569549840 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Inborn genetic diseases
RS1569549841 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS1569549974 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS1569550143 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS1569550773 PGK1 Health Risk Likely pathogenic Male infertility due to obstructive azoospermia, Male infertility due to obstructive azoospermia
RS1569551376 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1569551449 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS1569551475 FLNA Health Risk Pathogenic —
RS1569551502 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1569551635 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Melnick-Needles syndrome
RS1569551642 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1569551736 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1569551769 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Heterotopia
RS1569551783 FLNA Health Risk Pathogenic FLNA related lung disease, Heterotopia
RS1569551861 FLNA Health Risk Pathogenic/Likely pathogenic Heterotopia, periventricular
RS1569551872 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1569551930 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Heterotopia
RS1569552076 EMD Health Risk Likely pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1569552079 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1569552080 EMD Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked
RS1569552096 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1569552102 EMD Health Risk Pathogenic —
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