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
RS2496653611 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496653723 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496653918 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496655165 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2496655318 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496656641 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496656680 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2496656745 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496656801 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496657019 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496658982 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496659071 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496659335 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496659813 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496659881 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2496659888 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2496660796 PHF21A Health Risk Likely pathogenic —
RS2496662886 ABCC8 Health Risk Pathogenic —
RS2496662893 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496663079 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496663221 ABCC8 Health Risk Likely pathogenic Diabetes mellitus, permanent neonatal 3
RS2496663250 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496663439 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496663531 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496663699 ABCC8 Health Risk Likely pathogenic —
RS2496663744 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496663754 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496663759 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496664032 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496664131 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496667151 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496667489 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS2496667722 ABCC8 Health Risk Pathogenic/Likely pathogenic Diabetes mellitus, permanent neonatal 3
RS2496668119 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496668297 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496668328 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496668596 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2496668620 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496668696 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496668989 ABCC8 Health Risk Likely pathogenic —
RS2496670154 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2496670236 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496670286 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496670715 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496670866 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496670899 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496671115 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496672003 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS2496672554 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496672672 ABCC8 Health Risk Likely pathogenic —
RS2496672683 ABCC8 Health Risk Likely pathogenic —
RS2496674822 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496675044 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496675352 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496675394 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496675449 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496675458 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2496675487 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496675586 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496675771 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496675773 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496675835 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496675867 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496676087 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496687937 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496688509 ABCC8 Health Risk Pathogenic —
RS2496689814 ABCC8 Health Risk Pathogenic —
RS2496711460 TYR Health Risk Pathogenic —
RS2496711543 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496711997 TYR Health Risk Pathogenic Oculocutaneous albinism type 1B, Oculocutaneous albinism type 1A
RS2496712080 TYR Health Risk Likely pathogenic —
RS2496712146 TYR Health Risk Pathogenic TYR-related disorder, TYR-related disorder
RS2496717956 LRP5 Health Risk Pathogenic —
RS2496718398 LRP5 Health Risk Pathogenic —
RS2496722228 C2CD3 Health Risk Likely pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS2496726431 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496728342 MYO7A Health Risk Pathogenic —
RS2496729081 MYO7A Health Risk Pathogenic —
RS2496731085 MYO7A Health Risk Pathogenic —
RS2496741202 KCNQ1 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome
RS2496741235 LRP5 Health Risk Likely pathogenic —
RS2496741590 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2496741859 KCNQ1 Health Risk Likely pathogenic Congenital long QT syndrome, Congenital long QT syndrome
RS2496742137 KCNQ1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2496742355 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2496742945 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2496743195 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2496744582 MYO7A Health Risk Pathogenic Retinitis pigmentosa, Usher syndrome type 1B
RS2496744948 MYO7A Health Risk Pathogenic —
RS2496745583 MYO7A Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2496746746 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496748155 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2496748177 MYO7A Health Risk Likely pathogenic —
RS2496748386 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2496748689 MYO7A Health Risk Pathogenic —
RS2496750905 MYO7A Health Risk Pathogenic —
RS2496752260 MYO7A Health Risk Likely pathogenic —
RS2496752969 ABCC8 Health Risk Pathogenic —
RS2496755272 ABCC8 Health Risk Pathogenic —
RS2496755478 ABCC8 Health Risk Pathogenic —
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