SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS875989867 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989869 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989872 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989873 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989875 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989876 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989877 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989878 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Inborn genetic diseases
RS875989879 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS875989880 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS875989881 SPTBN2 Health Risk Likely pathogenic Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS875989882 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS875989883 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Vitamin D-dependent rickets
RS875989884 L1CAM Health Risk Pathogenic/Likely pathogenic X-linked hydrocephalus syndrome, L1 syndrome
RS875989885 SYCE1 Health Risk Pathogenic Premature ovarian failure 12, Premature ovarian failure 12
RS875989887 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS875989888 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989889 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989890 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS875989891 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS875989893 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989894 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989895 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989896 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989897 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989898 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989899 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989900 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989901 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989902 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989903 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989905 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989906 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989907 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989908 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989909 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS875989910 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989911 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989912 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989913 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989914 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS875989915 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989916 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989917 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989918 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS875989919 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS875989920 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989921 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989922 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989925 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989926 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989927 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989928 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS875989929 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS875989930 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989931 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989932 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS875989933 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS875989934 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS875989935 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989936 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS875989937 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989938 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS875989940 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989941 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989942 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989943 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS875989944 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS875989946 IDUA Health Risk Conflicting classifications of pathogenicity Hurler syndrome, Mucopolysaccharidosis type 1
RS875989947 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS875989948 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS875989949 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS875989950 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS875989951 SLC26A2 Health Risk Pathogenic Atelosteogenesis type II, Atelosteogenesis type II
RS875989952 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS876657369 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS876657370 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS876657371 TMIE Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
RS876657374 NECTIN1 Health Risk Pathogenic Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS876657376 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS876657377 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS876657378 SMARCA4 Health Risk Pathogenic Intellectual disability, autosomal dominant 16
RS876657379 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS876657380 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS876657381 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS876657382 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS876657383 PPP2R5D Health Risk Pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS876657384 NDUFB11 Health Risk Pathogenic Linear skin defects with multiple congenital anomalies 3, Linear skin defects with multiple congenital anomalies 3
RS876657385 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS876657386 SNX14 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 20, SNX14-related disorder
RS876657387 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS876657388 EDNRA Health Risk Pathogenic Mandibulofacial dysostosis with alopecia, Mandibulofacial dysostosis with alopecia
RS876657389 KCNA2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32
RS876657390 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS876657391 ALX4 Health Risk Pathogenic Frontonasal dysplasia with alopecia and genital anomaly, Frontonasal dysplasia with alopecia and genital anomaly
RS876657392 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS876657393 TTC7A Health Risk Likely pathogenic Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1
RS876657394 THRA Health Risk Pathogenic Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
RS876657395 THRA Health Risk Pathogenic Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
RS876657396 THRA Health Risk Pathogenic Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
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