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
RS1555805530 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1555805531 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555805633 RYR1 Health Risk Pathogenic —
RS1555805797 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1555805930 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555805947 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555805985 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555806088 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555806110 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555806119 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS1555806333 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1555806448 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555806455 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555806467 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555806526 LDLR Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1555806529 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1555806536 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1555806546 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555806582 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555806893 CNOT3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555807206 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS1555807261 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555807275 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555807306 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555807335 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555807356 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555807388 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555807390 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555807421 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555807435 LDLR Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1555807442 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1555807465 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555807475 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555808008 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555808044 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555808094 LDLR Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1555808107 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555808111 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555808114 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555808118 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555808120 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555808139 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555808143 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555808841 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1555809337 ADNP Health Risk Likely pathogenic —
RS1555809471 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555809490 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555809520 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555809594 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1555809836 ADNP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555809919 ADNP Health Risk Pathogenic Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1555809953 ADNP Health Risk Pathogenic —
RS1555809957 ADNP Health Risk Pathogenic —
RS1555809984 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases
RS1555809987 ADNP Health Risk Pathogenic —
RS1555810001 ADNP Health Risk Pathogenic —
RS1555810093 ADNP Health Risk Pathogenic —
RS1555810163 ADNP Health Risk Likely pathogenic —
RS1555810193 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1555810299 ABHD12 Health Risk Likely pathogenic PHARC syndrome, PHARC syndrome
RS1555810308 ADNP Health Risk Pathogenic Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1555810335 ADNP Health Risk Pathogenic —
RS1555810376 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1555810401 ADNP Health Risk Likely pathogenic —
RS1555810613 PNKP Health Risk Pathogenic Ataxia - oculomotor apraxia type 4, Ataxia - oculomotor apraxia type 4
RS1555810794 ADNP Health Risk Pathogenic —
RS1555810849 PNKP Health Risk Likely pathogenic —
RS1555810891 PNKP Health Risk Likely pathogenic —
RS1555811201 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1555811386 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555811525 ABHD12 Health Risk Likely pathogenic Retinal dystrophy, PHARC syndrome
RS1555811666 PRKAR1A Health Risk Pathogenic —
RS1555811735 PRKAR1A Health Risk Likely pathogenic —
RS1555811742 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555811753 PRKAR1A Health Risk Likely pathogenic Carney complex, type 1
RS1555811762 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1555811929 ARFGEF2 Health Risk Pathogenic Periventricular heterotopia with microcephaly, autosomal recessive
RS1555811966 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555812161 ADNP Health Risk Likely pathogenic Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1555812178 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555812228 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555812474 ADNP Health Risk Likely pathogenic —
RS1555812480 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555812834 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555813123 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555813144 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555813217 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS1555813267 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1555813319 HNF4A Health Risk Pathogenic Hyperinsulinism due to HNF4A deficiency, Maturity-onset diabetes of the young type 1
RS1555813342 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1555813434 PRKAR1A Health Risk Pathogenic —
RS1555813578 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS1555813914 ABHD12 Health Risk Pathogenic PHARC syndrome, PHARC syndrome
RS1555814044 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555814100 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS1555814115 PRKAR1A Health Risk Pathogenic —
RS1555814207 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555814334 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1555814400 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1555814427 CALM3 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
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