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
RS2471561228 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471561343 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471562057 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471562112 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471562154 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471562505 SCN5A Health Risk Pathogenic —
RS2471573386 SCN5A Health Risk Pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS2471573874 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471575135 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS2471579611 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS2471579649 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471580423 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471581983 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471583750 SCN5A Health Risk Pathogenic —
RS2471584370 SCN5A Health Risk Likely pathogenic —
RS2471584748 MITF Health Risk Pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS2471585091 MITF Health Risk Pathogenic/Likely pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS2471585421 CRTAP Health Risk Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471585496 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471585529 CRTAP Health Risk Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471591500 MITF Health Risk Pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS2471591650 MITF Health Risk Likely pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS2471593362 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2471593660 MYD88 Health Risk Pathogenic Pyogenic bacterial infections due to MyD88 deficiency, Pyogenic bacterial infections due to MyD88 deficiency
RS2471597566 THRB Health Risk Pathogenic Generalized resistance to thyroid hormone, Generalized resistance to thyroid hormone
RS2471598456 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS2471598592 MITF Health Risk Likely pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS2471599633 THRB Health Risk Pathogenic Selective pituitary resistance to thyroid hormone, Selective pituitary resistance to thyroid hormone
RS2471599684 THRB Health Risk Likely pathogenic THRB-related disorder, THRB-related disorder
RS2471599939 THRB Health Risk Likely pathogenic —
RS2471600433 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471619850 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2471620779 MITF Health Risk Pathogenic Melanoma, cutaneous malignant
RS2471621034 MITF Health Risk Pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS2471630299 IMPDH2 Health Risk Likely pathogenic —
RS2471630430 MITF Health Risk Likely pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS2471630671 IMPDH2 Health Risk Conflicting classifications of pathogenicity IMPDH2-related neurodevelopmental condition, IMPDH2-related neurodevelopmental condition
RS2471632050 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471632340 IMPDH2 Health Risk Likely pathogenic Dystonic disorder, Dystonic disorder
RS2471632438 SCN5A Health Risk Pathogenic —
RS2471632647 SCN5A Health Risk Pathogenic —
RS2471633372 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471636851 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471638084 SCN5A Health Risk Likely pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS2471638168 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471638436 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471641679 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2471644439 MITF Health Risk Likely pathogenic Melanoma, Melanoma
RS2471649491 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471649600 SCN5A Health Risk Likely pathogenic Congenital long QT syndrome, Congenital long QT syndrome
RS2471650207 SCN5A Health Risk Likely pathogenic —
RS2471650800 QRICH1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2471656861 SCN5A Health Risk Likely pathogenic —
RS2471657748 SCN5A Health Risk Pathogenic —
RS2471657838 SCN5A Health Risk Pathogenic —
RS2471658799 SCN5A Health Risk Pathogenic —
RS2471658928 SCN5A Health Risk Pathogenic —
RS2471658977 SCN5A Health Risk Pathogenic Brugada syndrome (shorter-than-normal QT interval), Brugada syndrome (shorter-than-normal QT interval)
RS2471659061 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471659309 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS2471659465 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS2471659972 SCN5A Health Risk Pathogenic —
RS2471660729 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471660795 SCN5A Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471673266 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471673344 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471673356 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471675160 GBE1 Health Risk Likely pathogenic Glycogen storage disease IV, classic hepatic
RS2471675336 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471675343 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471675503 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471675648 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471677709 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS2471677773 SCN5A Health Risk Pathogenic —
RS2471677956 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471678625 SCN5A Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471682518 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2471684443 SCN5A Health Risk Likely pathogenic 8 conditions, 8 conditions
RS2471685074 SCN5A Health Risk Pathogenic —
RS2471685151 SCN5A Health Risk Pathogenic —
RS2471706730 QRICH1 Health Risk Pathogenic —
RS2471707104 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2471707459 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2471708259 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2471708593 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2471710380 QRICH1 Health Risk Pathogenic —
RS2471718612 ROBO1 Health Risk Pathogenic —
RS2471720840 SCN5A Health Risk Pathogenic Brugada syndrome, Cardiac arrhythmia
RS2471721652 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS2471722766 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471722837 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471722852 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471725870 THRB Health Risk Likely pathogenic THRB-related disorder, THRB-related disorder
RS2471726839 SCN5A Health Risk Pathogenic Brugada syndrome 1, Brugada syndrome 1
RS2471727098 SCN5A Health Risk Pathogenic Brugada syndrome 1, Brugada syndrome 1
RS2471727144 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471727172 GBE1 Health Risk Likely pathogenic GBE1-related disorder, GBE1-related disorder
RS2471727306 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471727316 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471727330 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
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