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
RS3834658 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS3838786 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS3842295 PRB3 Health Risk Pathogenic PRB3M(NULL), PRB3M(NULL)
RS3842570 CAPN10 Health Risk risk factor Type 2 diabetes mellitus 1, susceptibility to
RS3842740 INS Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 10, Maturity-onset diabetes of the young type 10
RS3842753 INS Health Risk Conflicting classifications of pathogenicity Hyperproinsulinemia, Maturity-onset diabetes of the young type 10
RS3847675 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Thyroid cancer
RS3852522 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS386134122 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134124 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134125 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134126 CP Health Risk Likely pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134127 CP Health Risk Likely pathogenic Deficiency of ferroxidase, Neurodegeneration with brain iron accumulation
RS386134129 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134130 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134131 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134132 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134134 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134135 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134136 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134137 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134138 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134139 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134140 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134141 CP Health Risk Likely pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134142 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134143 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134144 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134145 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134146 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134147 CP Health Risk Pathogenic/Likely pathogenic Deficiency of ferroxidase, Neurodegeneration with brain iron accumulation
RS386134148 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134149 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134150 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134151 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134152 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134153 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134154 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134155 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134156 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134157 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134158 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134159 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134160 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134161 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134162 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134163 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134164 PRKCG Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134165 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134166 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134168 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134169 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134170 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134171 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134172 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134173 ALS2 Health Risk Pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS386134174 ALS2 Health Risk Pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS386134175 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS386134176 ALS2 Health Risk Pathogenic Juvenile primary lateral sclerosis, Juvenile primary lateral sclerosis
RS386134178 ALS2 Health Risk Pathogenic Juvenile primary lateral sclerosis, Juvenile primary lateral sclerosis
RS386134181 ALS2 Health Risk Pathogenic Juvenile primary lateral sclerosis, Infantile-onset ascending hereditary spastic paralysis
RS386134182 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS386134183 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS386134184 ALS2 Health Risk Pathogenic Juvenile primary lateral sclerosis, Juvenile primary lateral sclerosis
RS386134187 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS386134188 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS386134190 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134193 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, SLC22A5-related disorder
RS386134194 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS386134195 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134197 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS386134198 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134199 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS386134200 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS386134201 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134202 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134203 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS386134204 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134207 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134208 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS386134209 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134210 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Inborn genetic diseases
RS386134211 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134212 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134214 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS386134215 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134217 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134218 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134221 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS386134222 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134223 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134224 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134225 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, SLC22A5-related disorder
RS386134226 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Papillary renal cell carcinoma type 1
RS386134227 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS386134230 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS386134235 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS386134236 HBB Health Risk Conflicting classifications of pathogenicity —
RS386134238 IKBKG Health Risk Likely pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS386134240 IKBKG Health Risk Likely pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
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