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
RS2482284736 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482284914 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
RS2482287354 ZNF292 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482290757 ZNF292 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482291664 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482292094 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482292281 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482292319 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482292750 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482292832 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482295209 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482298524 ZNF292 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, ZNF292-related disorder
RS2482299481 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482300438 RTN4IP1 Health Risk Pathogenic —
RS2482302518 ZNF292 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2482302899 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482303357 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
RS2482304968 DSE Health Risk Likely pathogenic —
RS2482307867 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
RS2482308239 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482308298 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482308349 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482308373 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482308393 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482308463 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482308483 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482308531 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482308729 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482308831 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS2482308835 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482309323 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482309436 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
RS2482312921 RTN4IP1 Health Risk Pathogenic —
RS2482312971 RTN4IP1 Health Risk Pathogenic —
RS2482313207 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482313661 ZNF292 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482314736 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482321726 ZNF292 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2482324124 ZNF292 Health Risk Likely pathogenic Autosomal dominant non-syndromic intellectual disability, Autosomal dominant non-syndromic intellectual disability
RS2482327974 ZNF292 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482333071 RTN4IP1 Health Risk Pathogenic —
RS2482333343 RTN4IP1 Health Risk Pathogenic —
RS2482333956 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482334414 ZNF292 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2482334653 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482334689 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482334733 LAMA2 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS2482334738 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2482334983 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482335022 ZNF292 Health Risk Likely pathogenic —
RS2482335118 LAMA2 Health Risk Pathogenic —
RS2482335330 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482335465 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
RS2482336205 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482336212 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482336564 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482336619 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482336968 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482337397 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
RS2482339428 ZNF292 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482341145 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482346171 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482348094 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482348774 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2482348803 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482349062 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
RS2482349159 PHIP Health Risk Likely pathogenic See cases, See cases
RS2482349746 ZNF292 Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder
RS2482350320 PHIP Health Risk Likely pathogenic —
RS2482350552 PHIP Health Risk Pathogenic —
RS2482351042 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482351208 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482351242 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482351284 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482351345 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482351416 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2482351431 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2482351701 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482352133 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2482352325 ZNF292 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2482352800 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482353118 ZNF292 Health Risk Likely pathogenic —
RS2482353470 ZNF292 Health Risk Likely pathogenic ZNF292-related disorder, ZNF292-related disorder
RS2482358615 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS2482366814 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482367028 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482367090 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482367178 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482368025 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482368035 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482368300 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Arginase deficiency
RS2482368322 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2482368498 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2482368714 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482369125 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482369454 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS2482369894 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482369953 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482370138 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS2482370169 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
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