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
RS2490588301 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490592102 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490592318 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2490594673 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS2490595544 IARS1 Health Risk Pathogenic —
RS2490595586 MUSK Health Risk Likely pathogenic —
RS2490598994 ERCC6L2 Health Risk Likely pathogenic ERCC6L2-related disorder, ERCC6L2-related disorder
RS2490599065 ERCC6L2 Health Risk Pathogenic —
RS2490602769 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602783 RMRP Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS2490602876 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602916 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602929 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602952 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602964 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490602971 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490603023 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490603242 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490603296 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490603538 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490603549 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS2490603615 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2490604082 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490604150 RMRP Health Risk Pathogenic/Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS2490604293 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490604530 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490604636 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2490610421 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490610438 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490610455 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS2490610627 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490612370 SURF1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490613319 SURF1 Health Risk Pathogenic —
RS2490613354 SURF1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490613394 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490613455 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS2490613548 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2490613607 SURF1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490613666 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Charcot-Marie-Tooth disease type 4K
RS2490613671 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2490613891 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Charcot-Marie-Tooth disease type 4K
RS2490613924 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2490614044 SURF1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2490616080 SURF1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490616299 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2490616670 SURF1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490616704 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2490616724 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2490616900 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490616999 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS2490617017 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2490617074 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490619353 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS2490619546 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2490620007 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2490621719 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2490621738 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490621864 ASS1 Health Risk Likely pathogenic ASS1-related disorder, ASS1-related disorder
RS2490621912 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490621965 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2490622155 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2490623261 SURF1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490623379 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS2490623421 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490623707 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS2490627975 SURF1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490628066 SURF1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2490628954 SURF1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490628968 SURF1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2490631214 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490631235 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia
RS2490631524 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490634930 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia type I
RS2490641031 LAMC3 Health Risk Pathogenic —
RS2490653678 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490653790 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490659920 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490660155 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490664456 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490664696 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490665160 TMEM126B Health Risk Pathogenic —
RS2490665880 COL5A1 Health Risk Likely pathogenic COL5A1-related disorder, COL5A1-related disorder
RS2490670454 TPM2 Health Risk Likely pathogenic TPM2-related disorder, TPM2-related disorder
RS2490678140 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS2490680513 LAMC3 Health Risk Likely pathogenic —
RS2490682185 LMX1B Health Risk Likely pathogenic LMX1B-related disorder, LMX1B-related disorder
RS2490682241 LMX1B Health Risk Pathogenic LMX1B-related disorder, LMX1B-related disorder
RS2490682549 LMX1B Health Risk Pathogenic —
RS2490682650 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella syndrome
RS2490682841 LMX1B Health Risk Pathogenic —
RS2490682861 LMX1B Health Risk Pathogenic —
RS2490683095 TPM2 Health Risk Likely pathogenic —
RS2490683549 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490683572 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490684829 TPM2 Health Risk Likely pathogenic —
RS2490687634 LMX1B Health Risk Pathogenic LMX1B-related disorder, LMX1B-related disorder
RS2490687658 LMX1B Health Risk Pathogenic —
RS2490688015 LMX1B Health Risk Pathogenic —
RS2490688207 LMX1B Health Risk Likely pathogenic Nail-patella syndrome, Nail-patella syndrome
RS2490689093 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
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