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
RS1131692023 MMAA Health Risk Likely pathogenic —
RS1131692024 COL3A1 Health Risk Likely pathogenic —
RS1131692025 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1131692026 PHEX Health Risk Pathogenic —
RS1131692028 DNM1 Health Risk Likely pathogenic —
RS1131692029 PHEX Health Risk Likely pathogenic —
RS1131692030 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1131692031 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1131692032 NDUFS1 Health Risk Likely pathogenic —
RS1131692034 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1131692035 BRCA2 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS1131692036 ELOVL4 Health Risk Pathogenic Spinocerebellar ataxia type 34, Spinocerebellar ataxia type 34
RS1131692037 MRPS34 Health Risk Likely pathogenic Leigh syndrome, Combined oxidative phosphorylation deficiency 32
RS1131692039 CHD7 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1131692040 RPL10 Health Risk Pathogenic Intellectual disability, X-linked
RS1131692041 RPL10 Health Risk Pathogenic Intellectual disability, X-linked
RS1131692042 RPL10 Health Risk Pathogenic Intellectual disability, X-linked
RS1131692043 YY1 Health Risk Pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS1131692044 YY1 Health Risk Pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS1131692045 YY1 Health Risk Pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS1131692046 YY1 Health Risk Pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS1131692047 NKX6-2 Health Risk Pathogenic Spastic ataxia 8, autosomal recessive
RS1131692048 NKX6-2 Health Risk Pathogenic Spastic ataxia 8, autosomal recessive
RS1131692049 FBN1 Health Risk Pathogenic MASS syndrome, MASS syndrome
RS1131692050 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1131692052 FBN1 Health Risk Pathogenic Acromicric dysplasia, Acromicric dysplasia
RS1131692053 MAP3K1 Health Risk Pathogenic 46, XY sex reversal 6
RS1131692054 PTPRF Health Risk Pathogenic Breasts and/or nipples, aplasia or hypoplasia of
RS1131692055 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Focal segmental glomerulosclerosis 7
RS1131692056 PRKCB Health Risk Pathogenic Progressive sensorineural hearing impairment, Progressive sensorineural hearing impairment
RS1131692057 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS1131692058 BRAF Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS1131692059 ESR1 Health Risk Pathogenic/Likely pathogenic Estrogen resistance syndrome, Estrogen resistance syndrome
RS1131692060 COL4A5 Health Risk Likely pathogenic Familial hematuria, Familial hematuria
RS1131692065 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1131692086 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1131692093 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1131692098 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1131692107 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1131692109 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1131692115 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1131692117 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1131692119 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1131692137 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1131692146 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1131692147 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1131692148 HPS5 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1131692149 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1131692150 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1131692151 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1131692152 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1131692153 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1131692154 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 5
RS1131692155 OGT Health Risk Pathogenic Intellectual disability, X-linked 106
RS1131692156 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS1131692158 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1131692159 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS1131692161 CSNK2B Health Risk Pathogenic Intellectual disability and seizures, Poirier-Bienvenu neurodevelopmental syndrome
RS1131692162 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast neoplasm
RS1131692163 YY1 Health Risk Pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS1131692164 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1131692165 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1131692166 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1131692167 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1131692169 MCM5 Health Risk Pathogenic Meier-Gorlin syndrome 8, Meier-Gorlin syndrome 8
RS1131692170 ERAL1 Health Risk Pathogenic Perrault syndrome 6, Perrault syndrome
RS1131692171 NBAS Health Risk Pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS1131692173 EED Health Risk Likely pathogenic Cohen-Gibson syndrome, Cohen-Gibson syndrome
RS1131692174 EED Health Risk Pathogenic Cohen-Gibson syndrome, Cohen-Gibson syndrome
RS1131692175 EED Health Risk Pathogenic Cohen-Gibson syndrome, Cohen-Gibson syndrome
RS1131692176 EED Health Risk Pathogenic Cohen-Gibson syndrome, Cohen-Gibson syndrome
RS1131692177 SUZ12 Health Risk Pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS1131692180 TMEM107 Health Risk Pathogenic Meckel syndrome 13, Meckel syndrome 13
RS1131692181 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS1131692182 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS1131692183 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome
RS1131692184 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS1131692185 FLNC Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS1131692186 MAP3K1 Health Risk Pathogenic 46, XY sex reversal 6
RS1131692187 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
RS1131692189 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692190 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692191 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692192 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692193 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692194 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1131692195 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692196 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1131692197 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692198 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692201 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692202 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692203 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692204 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692205 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692206 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692208 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692209 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692210 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692211 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
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