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
RS2490436784 CEL Health Risk Pathogenic Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS2490437438 SET Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2490437540 SET Health Risk Pathogenic —
RS2490437710 CEL Health Risk Likely pathogenic Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS2490440303 SET Health Risk Pathogenic —
RS2490440555 BICD2 Health Risk Pathogenic —
RS2490442124 BICD2 Health Risk Pathogenic Spinal muscular atrophy with lower extremity predominance, Spinal muscular atrophy with lower extremity predominance
RS2490447870 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2490448712 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490448759 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490448849 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2490450597 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2490453128 BICD2 Health Risk Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS2490455393 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2490457430 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2490457505 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2490459149 BICD2 Health Risk Likely pathogenic Spinal muscular atrophy, lower extremity-predominant
RS2490459662 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490459959 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490461316 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2490463730 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2490464967 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS2490470325 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2490475612 PIGO Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS2490483708 COL27A1 Health Risk Likely pathogenic —
RS2490483848 COL27A1 Health Risk Pathogenic —
RS2490484546 COL27A1 Health Risk Pathogenic —
RS2490487316 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490487778 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490492592 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490496458 ERCC6L2 Health Risk Likely pathogenic Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS2490496771 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490499610 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS2490501351 COL5A1 Health Risk Pathogenic COL5A1-related disorder, COL5A1-related disorder
RS2490501961 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2490502192 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS2490507903 ADAMTS13 Health Risk Pathogenic —
RS2490509564 TG Health Risk Likely pathogenic —
RS2490510639 COL5A1 Health Risk Likely pathogenic —
RS2490512531 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS2490513173 LMX1B Health Risk Pathogenic —
RS2490515237 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2490515301 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490515378 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia
RS2490517188 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS2490517427 LMX1B Health Risk Pathogenic —
RS2490517429 LMX1B Health Risk Pathogenic —
RS2490517671 LMX1B Health Risk Pathogenic LMX1B-related disorder, LMX1B-related disorder
RS2490517965 LMX1B Health Risk Pathogenic —
RS2490518161 LMX1B Health Risk Pathogenic —
RS2490518250 LMX1B Health Risk Likely pathogenic —
RS2490518253 LMX1B Health Risk Pathogenic —
RS2490518285 LMX1B Health Risk Pathogenic Nail-patella syndrome, Inborn genetic diseases
RS2490518320 LMX1B Health Risk Pathogenic —
RS2490518360 LMX1B Health Risk Pathogenic —
RS2490518599 LMX1B Health Risk Likely pathogenic —
RS2490519684 SOHLH1 Health Risk Likely pathogenic Ovarian dysgenesis 5, Ovarian dysgenesis 5
RS2490520604 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490520629 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2490520787 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490521200 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490521936 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490522077 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490522246 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490531268 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2490531312 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2490531358 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490531703 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2490531804 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia type I
RS2490532067 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia
RS2490535036 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490536330 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2490546368 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490546449 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490546871 COL27A1 Health Risk Pathogenic —
RS2490547878 COL27A1 Health Risk Likely pathogenic Steel syndrome, Steel syndrome
RS2490550913 COL27A1 Health Risk Likely pathogenic Steel syndrome, Steel syndrome
RS2490553149 ERCC6L2 Health Risk Pathogenic —
RS2490553259 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia type I
RS2490553265 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490553577 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490555727 TG Health Risk Pathogenic —
RS2490556488 TG Health Risk Pathogenic —
RS2490556729 COL27A1 Health Risk Pathogenic —
RS2490558508 COL27A1 Health Risk Pathogenic —
RS2490561736 COL27A1 Health Risk Pathogenic —
RS2490562078 ERCC6L2 Health Risk Likely pathogenic Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS2490562660 ERCC6L2 Health Risk Pathogenic —
RS2490563082 TOR1A Health Risk Likely pathogenic TOR1A-related disorder, TOR1A-related disorder
RS2490566466 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2490567590 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2490569167 COL27A1 Health Risk Pathogenic —
RS2490581929 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2490581988 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, Citrullinemia type I
RS2490582195 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS2490582225 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia
RS2490582353 COL27A1 Health Risk Pathogenic —
RS2490583510 COL27A1 Health Risk Likely pathogenic —
RS2490585434 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490588050 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
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