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
RS886037875 IARS1 Health Risk Pathogenic Growth retardation, intellectual developmental disorder
RS886037876 IARS1 Health Risk Pathogenic Growth retardation, intellectual developmental disorder
RS886037877 IARS1 Health Risk Pathogenic Growth retardation, intellectual developmental disorder
RS886037878 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS886037880 PROM1 Health Risk Pathogenic Cone-rod dystrophy 12, Stargardt disease 4
RS886037881 PROM1 Health Risk Pathogenic Cone-rod dystrophy 12, Cone-rod dystrophy
RS886037885 OTULIN Health Risk Pathogenic Autoinflammation, panniculitis
RS886037886 OTULIN Health Risk Pathogenic; risk factor Autoinflammation, panniculitis
RS886037887 OTULIN Health Risk Pathogenic; risk factor Autoinflammation, panniculitis
RS886037888 ODAD4 Health Risk Pathogenic Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35
RS886037889 ODAD4 Health Risk Pathogenic Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35
RS886037890 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS886037891 EGFR Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS886037892 CIT Health Risk Pathogenic Microcephaly 17, primary
RS886037893 CIT Health Risk Pathogenic Microcephaly 17, primary
RS886037894 CIT Health Risk Pathogenic Microcephaly 17, primary
RS886037895 CIT Health Risk Pathogenic Microcephaly 17, primary
RS886037897 TRAF3IP1 Health Risk Pathogenic Senior-Loken syndrome 9, Senior-Loken syndrome 9
RS886037898 TRAF3IP1 Health Risk Pathogenic Senior-Loken syndrome 9, Senior-Loken syndrome 9
RS886037899 TRAF3IP1 Health Risk Pathogenic Senior-Loken syndrome 9, Senior-Loken syndrome 9
RS886037900 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS886037901 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS886037902 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS886037903 SCN5A Health Risk Pathogenic/Likely pathogenic Brugada syndrome 1, Cardiac arrhythmia
RS886037905 TPM1 Health Risk Likely pathogenic Dilated cardiomyopathy 1Y, Dilated cardiomyopathy 1Y
RS886037906 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome
RS886037907 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS886037908 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS886037909 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS886037910 GHR Health Risk Pathogenic Short stature due to partial GHR deficiency, Short stature due to partial GHR deficiency
RS886037911 IMPDH1 Health Risk Pathogenic Retinitis pigmentosa 10, Retinitis pigmentosa 10
RS886037913 MAPKAPK3 Health Risk Pathogenic Patterned macular dystrophy 3, Patterned macular dystrophy 3
RS886037916 PROKR2 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS886037917 KY Health Risk Pathogenic Myofibrillar myopathy 7, Myofibrillar myopathy 7
RS886037918 ELMO2 Health Risk Likely pathogenic Primary intraosseous venous malformation, Primary intraosseous venous malformation
RS886037919 ELMO2 Health Risk Pathogenic Primary intraosseous venous malformation, Primary intraosseous venous malformation
RS886037920 CD19 Health Risk Pathogenic Immunodeficiency, common variable
RS886037921 CD19 Health Risk Pathogenic Immunodeficiency, common variable
RS886037924 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS886037925 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS886037926 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS886037927 HSD17B10 Health Risk Likely pathogenic HSD10 mitochondrial disease, HSD10 mitochondrial disease
RS886037928 FIBP Health Risk Likely pathogenic Tall stature-intellectual disability-renal anomalies syndrome, Tall stature-intellectual disability-renal anomalies syndrome
RS886037929 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
RS886037930 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS886037931 PYCR2 Health Risk Pathogenic Hypomyelinating leukodystrophy 10, Leukodystrophy
RS886037932 PYCR2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS886037933 PYCR2 Health Risk Pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS886037934 MORC2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease
RS886037935 EML1 Health Risk Pathogenic Band heterotopia of brain, Band heterotopia of brain
RS886037936 EML1 Health Risk Likely pathogenic Band heterotopia of brain, Band heterotopia of brain
RS886037937 EML1 Health Risk Pathogenic Band heterotopia of brain, Band heterotopia of brain
RS886037938 GABRB3 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 43
RS886037939 GABRB3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 43
RS886037940 GABRB3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 43
RS886037941 GABRB3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 43
RS886037942 SLC1A2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 41
RS886037943 SLC1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 41
RS886037944 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS886037945 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS886037946 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS886037947 POMGNT1 Health Risk Pathogenic Retinitis pigmentosa 76, Retinitis pigmentosa 76
RS886037948 POMGNT1 Health Risk Pathogenic Retinitis pigmentosa 76, Retinitis pigmentosa 76
RS886037949 POMGNT1 Health Risk Pathogenic Retinitis pigmentosa 76, Retinitis pigmentosa 76
RS886037952 PPP1CB Health Risk Pathogenic Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome
RS886037953 PPP1CB Health Risk Likely pathogenic —
RS886037954 PPP1CB Health Risk Pathogenic Noonan syndrome-like disorder with loose anagen hair 2, RASopathy
RS886037955 PPP1CB Health Risk Likely pathogenic Noonan syndrome-like disorder with loose anagen hair 2, PPP1CB-related disorder
RS886037956 KLHL24 Health Risk Pathogenic Epidermolysis bullosa simplex, Koebner type
RS886037957 KLHL24 Health Risk Pathogenic Epidermolysis bullosa simplex, Koebner type
RS886037958 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS886037959 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS886037960 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS886037961 NPRL3 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS886037962 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS886037963 NPRL2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS886037964 NPRL2 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS886037965 NPRL2 Health Risk Pathogenic Epilepsy, familial focal
RS886037966 NPRL2 Health Risk Pathogenic Epilepsy, familial focal
RS886037967 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037972 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037973 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037974 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037976 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037977 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037978 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037979 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037980 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037981 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037982 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037985 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037986 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037987 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037988 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037990 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS886037991 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037993 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037994 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037995 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886037996 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
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