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
RS1603215383 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS1603216806 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1603216830 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1603217176 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1603217468 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1603217473 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1603218449 MT-TF Health Risk Conflicting classifications of pathogenicity MELAS syndrome, MELAS syndrome
RS1603218856 MT-TL1 Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease
RS1603218878 MT-TL1 Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease
RS1603219020 MT-ND1 Health Risk Likely pathogenic Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial disease
RS1603219126 MT-ND1 Health Risk Likely pathogenic Mitochondrial disease, See cases
RS1603219805 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS1603220010 MT-TW Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease
RS1603220762 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1603221634 MT-ATP6 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS1603221854 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603222000 MT-ATP6 Health Risk Likely pathogenic Progressive cerebellar ataxia, Leigh syndrome
RS1603222095 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603222314 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS1603222424 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603222556 DMD Health Risk Pathogenic Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS1603222574 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603222897 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603222922 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603223001 BCAP31 Health Risk Pathogenic Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
RS1603223025 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603223152 AIFM1 Health Risk Pathogenic Severe X-linked mitochondrial encephalomyopathy, Severe X-linked mitochondrial encephalomyopathy
RS1603223158 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
RS1603223645 MT-TL2 Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease
RS1603223646 MT-TL2 Health Risk Conflicting classifications of pathogenicity MELAS syndrome, Mitochondrial disease
RS1603223730 MT-ND5 Health Risk Likely pathogenic Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, MELAS syndrome
RS1603223971 MT-ND5 Health Risk Likely pathogenic Leigh syndrome, MELAS syndrome
RS1603224015 MT-ND5 Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease
RS1603224029 MT-ND5 Health Risk Pathogenic MELAS syndrome, Mitochondrial disease
RS1603224043 MT-ND5 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS1603224226 AIFM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth disease X-linked recessive 4
RS1603224738 MT-ND6 Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease
RS1603224770 MT-ND6 Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS1603224817 AIFM1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked recessive 4, Charcot-Marie-Tooth disease X-linked recessive 4
RS1603224966 MT-CYB Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS1603225138 AIFM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked mitochondrial encephalomyopathy, Charcot-Marie-Tooth disease X-linked recessive 4
RS1603225182 AIFM1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Bieganski type
RS1603226023 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603226766 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1603227409 AIFM1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked recessive 4, Charcot-Marie-Tooth disease X-linked recessive 4
RS1603231653 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603231784 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603231848 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603231897 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603231911 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603232111 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603232195 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603232237 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603232243 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603233089 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603233113 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603233120 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603234451 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603234466 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603234501 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603234574 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603234759 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603234766 ABCD1;PLXNB3-AS1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603235263 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603235267 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603235321 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603235389 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603235394 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603235406 ABCD1 Health Risk Pathogenic —
RS1603235421 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603235901 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603235941 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603236012 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603236013 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603236020 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603236086 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1603236385 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1603236465 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS1603238847 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, Thyroid cancer
RS1603240572 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS1603240717 GPC3 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS1603241575 TBX2 Health Risk Likely pathogenic TBX2-related disorder, TBX2-related disorder
RS1603241972 PLS3 Health Risk Likely pathogenic Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
RS1603244482 CHM Health Risk Pathogenic —
RS1603244690 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1603246794 THOC2 Health Risk Likely pathogenic X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS1603248167 TBX4 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary hypertension
RS1603248606 TBX4 Health Risk Pathogenic Coxopodopatellar syndrome, Pulmonary hypertension
RS1603251001 TBX4 Health Risk Pathogenic Autosomal recessive amelia, Coxopodopatellar syndrome
RS1603251494 TBX4 Health Risk Pathogenic 6 conditions, Autosomal recessive amelia
RS1603253563 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603253605 DMD Health Risk Pathogenic —
RS1603254792 TBX4 Health Risk Pathogenic —
RS1603255224 TBX4 Health Risk Likely pathogenic Coxopodopatellar syndrome, Pulmonary hypertension
RS1603255267 TBX4 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS1603255327 TBX4 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary hypertension
RS1603255336 TBX4 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS1603255339 TBX4 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS1603255389 THOC2 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability-short stature-overweight syndrome, X-linked intellectual disability-short stature-overweight syndrome
RS1603256040 TBX4 Health Risk Pathogenic/Likely pathogenic Coxopodopatellar syndrome, Pulmonary hypertension
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