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
RS2473557457 PIK3CA Health Risk Likely pathogenic Arteriovenous malformation, Arteriovenous malformation
RS2473572861 MED12L Health Risk Likely pathogenic Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS2473594035 TBL1XR1 Health Risk Likely pathogenic Pierpont syndrome, Pierpont syndrome
RS2473594088 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS2473594429 TBL1XR1 Health Risk Pathogenic Intellectual disability, autosomal dominant 41
RS2473598536 SETD5 Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2473600973 SETD5 Health Risk Pathogenic —
RS2473602891 SETD5 Health Risk Pathogenic —
RS2473632273 LOC126806878;TBL1XR1;TBL1XR1-AS1 Health Risk Likely pathogenic TBL1XR1-related neurodevelopmental disorder, TBL1XR1-related neurodevelopmental disorder
RS2473634100 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Pierpont syndrome
RS2473634948 TBL1XR1 Health Risk Likely pathogenic Pierpont syndrome, Intellectual disability
RS2473635400 RNF13 Health Risk Pathogenic Developmental and epileptic encephalopathy, 73
RS2473635477 RNF13 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 73
RS2473640334 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2473640876 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2473655748 RSRC1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 70
RS2473659503 EIF2B5 Health Risk Pathogenic —
RS2473659580 EIF2B5 Health Risk Pathogenic —
RS2473660992 EIF2B5 Health Risk Pathogenic —
RS2473661266 EIF2B5 Health Risk Pathogenic —
RS2473661903 EIF2B5 Health Risk Pathogenic —
RS2473665032 EIF2B5 Health Risk Pathogenic —
RS2473665816 EIF2B5 Health Risk Pathogenic —
RS2473666139 EIF2B5 Health Risk Pathogenic —
RS2473668375 EIF2B5 Health Risk Likely pathogenic —
RS2473669392 EIF2B5 Health Risk Likely pathogenic —
RS2473669661 EIF2B5 Health Risk Pathogenic —
RS2473669778 EIF2B5 Health Risk Likely pathogenic —
RS2473669779 EIF2B5 Health Risk Likely pathogenic —
RS2473670780 EIF2B5 Health Risk Pathogenic —
RS2473670814 EIF2B5 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS2473671725 EIF2B5 Health Risk Likely pathogenic —
RS2473672855 EIF2B5 Health Risk Pathogenic Vanishing white matter disease, Vanishing white matter disease
RS2473680440 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2473683178 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2473690796 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473691099 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473692907 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473693902 COL4A4 Health Risk Likely pathogenic —
RS2473697428 DVL3 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 3, Autosomal dominant Robinow syndrome 3
RS2473700386 TBL1XR1 Health Risk Likely pathogenic Pierpont syndrome, Pierpont syndrome
RS2473700513 TBL1XR1 Health Risk Likely pathogenic —
RS2473700683 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Pierpont syndrome
RS2473700888 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS2473701105 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Pierpont syndrome
RS2473702055 TBL1XR1 Health Risk Pathogenic —
RS2473714807 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2473716682 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2473716820 SOX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2473717120 SOX2 Health Risk Pathogenic Microphthalmia, Microphthalmia
RS2473717246 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2473717249 LOC108281177;SOX2;SOX2-OT Health Risk Likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2473717602 SOX2 Health Risk Likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2473717674 SOX2 Health Risk Pathogenic Anophthalmia, Anophthalmia
RS2473717827 SOX2 Health Risk Likely pathogenic SOX2-related disorder, SOX2-related disorder
RS2473717934 COL4A4 Health Risk Pathogenic —
RS2473718027 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2473718276 COL4A4 Health Risk Pathogenic/Likely pathogenic Hematuria, benign familial
RS2473718342 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2473718812 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2473719100 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2473719118 COL4A4 Health Risk Pathogenic —
RS2473719440 COL4A4 Health Risk Pathogenic/Likely pathogenic Hematuria, benign familial
RS2473719695 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS2473719799 TBL1XR1 Health Risk Pathogenic Intellectual disability, autosomal dominant 41
RS2473719921 TBL1XR1 Health Risk Likely pathogenic TBL1XR1-related disorder, TBL1XR1-related disorder
RS2473720054 SOX2 Health Risk Likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS2473720066 TBL1XR1 Health Risk Conflicting classifications of pathogenicity TBL1XR1-related disorder, Pierpont syndrome
RS2473720581 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2473720747 TBL1XR1 Health Risk Likely pathogenic TBL1XR1-related disorder, TBL1XR1-related disorder
RS2473724781 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS2473724949 TBL1XR1 Health Risk Likely pathogenic —
RS2473732163 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Intellectual disability
RS2473748067 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Pierpont syndrome
RS2473753535 TRA2B Health Risk Pathogenic TRA2B-associated epileptic encephalopathy, RAMOND-ELLIOTT NEURODEVELOPMENTAL SYNDROME
RS2473757305 MED12L Health Risk Likely pathogenic Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS2473757315 MED12L Health Risk Likely pathogenic Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS2473767486 CACNA1D Health Risk Pathogenic Aldosterone-producing adenoma with seizures and neurological abnormalities, Aldosterone-producing adenoma with seizures and neurological abnormalities
RS2473767558 CACNA1D Health Risk Pathogenic Congenital disorder of glycosylation, type Iw
RS2473776344 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2473776818 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473777138 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473777314 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS2473777874 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473778214 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473781768 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473782922 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473793694 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473800393 CLDN16 Health Risk Likely pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS2473803568 SETD5 Health Risk Pathogenic —
RS2473804044 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473804087 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473804121 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473804152 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473804165 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473806198 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473806213 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473808806 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS2473808850 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2473808878 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
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