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
RS786204758 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, TTPA-related disorder
RS786204759 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS786204761 CHM Health Risk Pathogenic/Likely pathogenic Choroideremia, Retinal dystrophy
RS786204762 CNGB3 Health Risk Pathogenic Achromatopsia 3, Retinal dystrophy
RS786204763 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS786204764 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS786204766 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS786204767 CPT1C Health Risk Pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS786204770 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS786204771 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS786204773 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
RS786204774 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS786204777 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS786204778 KCNQ1 Health Risk Likely pathogenic Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome
RS786204779 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS786204780 LHX4 Health Risk Pathogenic Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
RS786204784 PPOX Health Risk Pathogenic/Likely pathogenic Variegate porphyria, Variegate porphyria
RS786204785 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS786204786 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, SGCG-related congenital myopathy
RS786204787 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS786204788 TCTN2 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS786204789 TMCO1 Health Risk Pathogenic Craniofacial dysmorphism, skeletal anomalies
RS786204790 TSHR Health Risk Likely pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS786204793 PSPH Health Risk Pathogenic Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
RS786204794 KCNJ6 Health Risk Pathogenic Keppen-Lubinsky syndrome, Keppen-Lubinsky syndrome
RS786204795 KCNJ6 Health Risk Likely pathogenic Keppen-Lubinsky syndrome, See cases
RS786204796 ORAI1 Health Risk Pathogenic Myopathy, tubular aggregate
RS786204797 ORAI1 Health Risk Conflicting classifications of pathogenicity Myopathy, tubular aggregate
RS786204798 ADCY6 Health Risk Pathogenic Lethal congenital contracture syndrome 8, Lethal congenital contracture syndrome 8
RS786204799 CNTNAP1 Health Risk Pathogenic Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7
RS786204800 CNTNAP1 Health Risk Pathogenic Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7
RS786204801 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, ZEB2-related disorder
RS786204802 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204803 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204804 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204805 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204806 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204807 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204808 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204809 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204810 ZEB2 Health Risk Pathogenic/Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204811 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204812 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204813 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204814 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204815 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS786204816 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204817 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204818 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204819 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204820 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204821 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS786204822 LHB Health Risk Pathogenic Isolated lutropin deficiency, Isolated lutropin deficiency
RS786204823 LHB Health Risk Pathogenic Isolated lutropin deficiency, Isolated lutropin deficiency
RS786204825 KLK4 Health Risk Pathogenic Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1
RS786204826 MMP20 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS786204828 ACO2 Health Risk Pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS786204829 ACO2 Health Risk Pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS786204830 ACO2 Health Risk Pathogenic Infantile cerebellar-retinal degeneration, Optic atrophy
RS786204831 SLC9A1 Health Risk Likely pathogenic Lichtenstein-Knorr syndrome, Lichtenstein-Knorr syndrome
RS786204832 ITPR2 Health Risk Pathogenic Isolated anhidrosis with normal sweat glands, Isolated anhidrosis with normal sweat glands
RS786204833 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS786204834 PURA Health Risk Pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS786204835 PURA Health Risk Pathogenic/Likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases
RS786204836 WNT5A Health Risk Pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS786204837 WNT5A Health Risk Pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS786204839 SCN5A Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Long QT syndrome 3
RS786204841 CLDN14 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS786204842 CAST Health Risk Pathogenic Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome, Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
RS786204843 P4HB Health Risk Pathogenic Cole-Carpenter syndrome 1, Cole-Carpenter syndrome 1
RS786204845 SEC24D Health Risk Pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS786204846 SEC24D Health Risk Pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS786204847 RIGI Health Risk Pathogenic Singleton-Merten syndrome 2, Singleton-Merten syndrome 2
RS786204848 RIGI Health Risk Pathogenic Singleton-Merten syndrome 2, Singleton-Merten syndrome 2
RS786204849 FIBP Health Risk Pathogenic/Likely pathogenic 6 conditions, Tall stature-intellectual disability-renal anomalies syndrome
RS786204851 SIX6 Health Risk Pathogenic Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
RS786204852 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Senior-Loken syndrome 8
RS786204853 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS786204854 PTEN Health Risk Pathogenic Macrocephaly, PTEN hamartoma tumor syndrome
RS786204855 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS786204856 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS786204858 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204859 PTEN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204862 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS786204863 PTEN Health Risk Conflicting classifications of pathogenicity Macrocephaly-autism syndrome, Hereditary cancer-predisposing syndrome
RS786204864 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS786204865 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204866 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS786204867 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS786204868 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204871 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204873 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS786204875 PTEN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204881 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS786204882 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS786204883 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS786204884 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786204890 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS786204892 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS786204894 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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