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
RS2114737043 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS2114740915 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114757071 MED23 Health Risk Pathogenic Intellectual disability, autosomal recessive 18
RS2114761115 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114765432 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114765447 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114765686 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114770006 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114774712 LAMA2 Health Risk Pathogenic —
RS2114774731 LAMA2 Health Risk Pathogenic —
RS2114788484 LAMA2 Health Risk Likely pathogenic Abnormality of the musculature, LAMA2-related muscular dystrophy
RS2114788785 LAMA2 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2114788848 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114793034 HACE1 Health Risk Likely pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS2114794775 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114795375 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2114795567 LAMA2 Health Risk Pathogenic —
RS2114801377 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114823738 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114823800 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114834489 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2114834541 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114834553 LAMA2 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2114834693 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114839550 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114839785 HACE1 Health Risk Pathogenic —
RS2114848887 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114848989 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114849006 LAMA2 Health Risk Pathogenic —
RS2114849148 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114859541 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114859580 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114859967 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114860862 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114873123 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114873389 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114883576 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2114884577 TAB2 Health Risk Pathogenic —
RS2114885325 TAB2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2114885719 TAB2 Health Risk Pathogenic/Likely pathogenic —
RS2114886711 TAB2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2114887873 TAB2 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, multiple types
RS2114887942 TAB2 Health Risk Pathogenic Primary dilated cardiomyopathy, Congenital heart defects
RS2114888164 TAB2 Health Risk Pathogenic —
RS2114888603 LAMA2 Health Risk Pathogenic —
RS2114888851 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114890695 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114890769 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114890786 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114891707 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114900265 LAMA2 Health Risk Pathogenic —
RS2114900655 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114900886 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114901040 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114901162 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114910650 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114911219 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114931095 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114931240 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114938789 RMND1 Health Risk Pathogenic —
RS2114939208 LAMA2 Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2114939704 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114939796 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114939909 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114939917 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114941534 TAB2 Health Risk Pathogenic/Likely pathogenic —
RS2114941976 TAB2 Health Risk Pathogenic —
RS2114943862 MPC1 Health Risk Likely pathogenic Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
RS2114947621 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114957290 DLL1 Health Risk Pathogenic —
RS2114958184 DLL1 Health Risk Pathogenic —
RS2114958269 DLL1 Health Risk Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2114958680 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114958704 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114964219 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114964292 DLL1 Health Risk Pathogenic —
RS2114964680 DLL1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2114966765 DLL1 Health Risk Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS2114967780 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114967814 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114967843 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114969441 PLN Health Risk Pathogenic Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
RS2114970035 PLN Health Risk Pathogenic Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
RS2114976490 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114993311 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114993363 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114999450 ARID1B Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2114999746 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2115000174 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2115002258 ARID1B Health Risk Likely pathogenic Congenital cerebellar hypoplasia, Corpus callosum
RS2115003519 ARID1B Health Risk Pathogenic See cases, See cases
RS2115003731 ARID1B Health Risk Pathogenic —
RS2115028353 PNLDC1 Health Risk Pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Spermatogenic failure 57
RS2115031969 ADGRG6 Health Risk Pathogenic Lethal congenital contracture syndrome 9, Lethal congenital contracture syndrome 9
RS2115032171 REV3L Health Risk Pathogenic —
RS2115034640 FAM20C Health Risk Pathogenic —
RS2115035271 CARD11 Health Risk Pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS2115037261 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2115038523 CARD11 Health Risk Likely pathogenic Immunodeficiency 11b with atopic dermatitis, Immunodeficiency 11b with atopic dermatitis
RS2115044716 CARD11 Health Risk Pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
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