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
RS1057517899 EVC Health Risk Likely pathogenic —
RS1057517902 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1057517903 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1057517904 PHEX Health Risk Conflicting classifications of pathogenicity —
RS1057517905 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS1057517906 KAT6B Health Risk Pathogenic —
RS1057517908 TUBB3 Health Risk Pathogenic/Likely pathogenic TUBB3-related disorder, Complex cortical dysplasia with other brain malformations 1
RS1057517909 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1057517910 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1057517911 TSEN54 Health Risk Likely pathogenic —
RS1057517914 NDUFA11 Health Risk Likely pathogenic —
RS1057517917 PTPN11 Health Risk Pathogenic —
RS1057517918 SOS1 Health Risk Likely pathogenic —
RS1057517919 KCNQ2 Health Risk Likely pathogenic Seizure, KCNQ2-related disorder
RS1057517920 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1057517923 CASK Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1057517926 FAR1 Health Risk Pathogenic CATARACTS, SPASTIC PARAPLEGIA
RS1057517927 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1057517928 HK1 Health Risk Likely pathogenic Retinitis pigmentosa 79, Hemolytic anemia due to hexokinase deficiency
RS1057517931 ADGRG1 Health Risk Conflicting classifications of pathogenicity Polymicrogyria, bilateral perisylvian
RS1057517932 TUBB2B Health Risk Likely pathogenic —
RS1057517933 TBL1XR1 Health Risk Pathogenic Intellectual disability, Inborn genetic diseases
RS1057517934 TAB2 Health Risk Likely pathogenic —
RS1057517935 PTPN11 Health Risk Pathogenic —
RS1057517936 NFIX Health Risk Likely pathogenic —
RS1057517937 TTN Health Risk Likely pathogenic —
RS1057517938 PLEC Health Risk Pathogenic —
RS1057517939 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1057517940 LAMP2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Danon disease
RS1057517941 SPRED1 Health Risk Pathogenic Legius syndrome, Cardiovascular phenotype
RS1057517942 SURF1 Health Risk Pathogenic Leigh syndrome, Charcot-Marie-Tooth disease type 4K
RS1057517943 SPRED1 Health Risk Likely pathogenic —
RS1057517944 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1057517945 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1057517947 RPS6KA3 Health Risk Likely pathogenic —
RS1057517948 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS1057517949 ADGRG1 Health Risk Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS1057517950 IL2RG Health Risk Pathogenic/Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1057517951 PORCN Health Risk Pathogenic —
RS1057517952 ALG6 Health Risk Conflicting classifications of pathogenicity —
RS1057517953 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1057517954 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Inborn genetic diseases
RS1057517955 KDM5C Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1057517956 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1057517957 CHD7 Health Risk Pathogenic —
RS1057517958 SCN1A Health Risk Pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS1057517959 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1057517960 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1057517964 FGFR3 Health Risk Pathogenic Hypochondroplasia, Hypochondroplasia
RS1057517966 MITF Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 2A, Congenital sensorineural hearing impairment
RS1057517967 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1057517969 COL7A1 Health Risk Pathogenic —
RS1057517971 EDA Health Risk Pathogenic —
RS1057517972 FAH Health Risk Likely pathogenic Tyrosinemia type I, See cases
RS1057517973 FLG Health Risk Pathogenic —
RS1057517974 SPAST Health Risk Pathogenic —
RS1057517975 IRF6 Health Risk Likely pathogenic —
RS1057517976 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS1057517977 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1057517978 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1057517979 PHEX Health Risk Pathogenic —
RS1057517980 PHEX Health Risk Likely pathogenic —
RS1057517981 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1057517982 PRPF31 Health Risk Pathogenic Retinal dystrophy, See cases
RS1057517984 TP63 Health Risk Likely pathogenic —
RS1057517985 TP63 Health Risk Likely pathogenic —
RS1057517986 TUBB4A Health Risk Pathogenic —
RS1057517987 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy with optic atrophy
RS1057517988 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1057517989 COL11A1 Health Risk Pathogenic Stickler syndrome, Stickler syndrome type 2
RS1057517990 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS1057517991 MC4R Health Risk Pathogenic/Likely pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, MC4R-related disorder
RS1057517992 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Multiple myeloma
RS1057517994 GLRA1 Health Risk Likely pathogenic —
RS1057517995 SLC24A5 Health Risk Conflicting classifications of pathogenicity —
RS1057517996 TUBB1 Health Risk Pathogenic/Likely pathogenic Macrothrombocytopenia, isolated
RS1057517997 ATRX Health Risk Likely pathogenic —
RS1057517998 NSD1 Health Risk Likely pathogenic —
RS1057518000 WASHC5 Health Risk Likely pathogenic —
RS1057518001 PKD1 Health Risk Likely pathogenic —
RS1057518002 EP300 Health Risk Likely pathogenic —
RS1057518003 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057518004 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1057518005 COL6A1 Health Risk Likely pathogenic —
RS1057518006 SLC26A4 Health Risk Likely pathogenic —
RS1057518007 KCND3 Health Risk Likely pathogenic —
RS1057518008 MYH3 Health Risk Conflicting classifications of pathogenicity —
RS1057518009 TTN Health Risk Likely pathogenic —
RS1057518010 KANSL1 Health Risk Likely pathogenic —
RS1057518011 TMEM240 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 21
RS1057518012 FBN1 Health Risk Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS1057518014 PUF60 Health Risk Likely pathogenic —
RS1057518015 TAB2 Health Risk Likely pathogenic —
RS1057518016 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS1057518018 NAA10 Health Risk Likely pathogenic —
RS1057518019 TAF1 Health Risk Likely pathogenic Intellectual disability, X-linked
RS1057518020 RPS6KA3 Health Risk Likely pathogenic —
RS1057518021 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1057518022 CDC42 Health Risk Likely pathogenic —
RS1057518023 FBN1 Health Risk Likely pathogenic —
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