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
RS2482014062 NUS1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 55
RS2482014199 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2482015846 NUS1 Health Risk Likely pathogenic Congenital disorder of glycosylation, type IAA
RS2482015901 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2482016013 NUS1 Health Risk Likely pathogenic Congenital bilateral perisylvian syndrome, Congenital bilateral perisylvian syndrome
RS2482016135 NUS1 Health Risk Pathogenic Intellectual disability, autosomal dominant 55
RS2482016210 NUS1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 55
RS2482032088 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2482032232 NUS1 Health Risk Likely pathogenic —
RS2482032266 NUS1 Health Risk Pathogenic Intellectual disability, autosomal dominant 55
RS2482037745 NUS1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 55
RS2482037920 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2482042261 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482042289 SEC63 Health Risk Likely pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS2482046323 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2482046568 PHIP Health Risk Pathogenic —
RS2482054151 SEC63 Health Risk Pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS2482059146 SEC63 Health Risk Pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS2482064962 SEC63 Health Risk Pathogenic —
RS2482068501 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482077737 PHIP Health Risk Pathogenic —
RS2482078362 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482078406 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482078529 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482082556 DSE Health Risk Likely pathogenic —
RS2482086431 DSE Health Risk Likely pathogenic Ehlers-Danlos syndrome, musculocontractural type 2
RS2482118024 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482118846 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482129454 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482129645 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482129863 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482130041 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482130457 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482131190 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482131205 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482131234 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482131696 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482131715 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482131737 PHIP Health Risk Pathogenic —
RS2482134518 SIM1 Health Risk Likely pathogenic SIM1-associated metabolic syndrome, SIM1-associated metabolic syndrome
RS2482135705 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482136480 SIM1 Health Risk Pathogenic —
RS2482141216 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482160222 JARID2 Health Risk Likely pathogenic Speech apraxia, Stereotypic movement disorder
RS2482161504 JARID2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2482165302 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482165307 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482171849 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2482181910 OSTM1 Health Risk Pathogenic —
RS2482181938 OSTM1 Health Risk Pathogenic —
RS2482185738 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482185944 PHIP Health Risk Pathogenic —
RS2482188475 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482188501 PHIP Health Risk Pathogenic —
RS2482189571 PHIP Health Risk Pathogenic —
RS2482194191 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482194379 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482194892 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482207163 ZNF292 Health Risk Likely pathogenic —
RS2482208468 OSTM1 Health Risk Pathogenic —
RS2482210063 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482210497 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482210602 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482216432 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2482221144 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2482221339 LMBRD1 Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2482221622 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2482237307 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482237317 LAMA2 Health Risk Likely pathogenic —
RS2482237536 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482237647 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482238214 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482238522 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482241074 OSTM1 Health Risk Pathogenic —
RS2482241440 OSTM1 Health Risk Pathogenic —
RS2482241461 OSTM1 Health Risk Pathogenic —
RS2482241490 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2482241906 OSTM1 Health Risk Likely pathogenic Osteopetrosis, Osteopetrosis
RS2482242040 BCKDHB Health Risk Pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2482243041 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1B, Maple syrup urine disease type 1B
RS2482243158 DSE Health Risk Pathogenic Ehlers-Danlos syndrome, musculocontractural type 2
RS2482251715 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482251798 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482252041 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482252099 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482252172 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482255741 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482258774 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482258800 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482260672 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482267558 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2482268455 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2482268520 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482269247 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2482270092 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2482274768 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482279719 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482280381 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482284043 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482284575 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
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