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
RS1555814477 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS1555814719 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS1555815121 PRKAR1A Health Risk Likely pathogenic Acrodysostosis 1 with or without hormone resistance, Carney complex
RS1555815158 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1555815238 PIK3R2 Health Risk Likely pathogenic —
RS1555815393 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1555815396 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1555815437 SPTBN4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555816615 HNF4A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1555816634 KANK2 Health Risk Pathogenic Nephrotic syndrome 16, Nephrotic syndrome 16
RS1555816642 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1555816654 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS1555817157 ABHD12 Health Risk Pathogenic PHARC syndrome, PHARC syndrome
RS1555817727 HNF4A Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Monogenic diabetes
RS1555817851 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1555818396 SPTBN4 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS1555821665 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1555821817 COL9A3 Health Risk Likely pathogenic Epiphyseal dysplasia, multiple
RS1555826433 MAFB Health Risk Pathogenic/Likely pathogenic —
RS1555826446 MAFB Health Risk Pathogenic —
RS1555826472 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1555827650 JAG1 Health Risk Pathogenic Arteriohepatic dysplasia, Arteriohepatic dysplasia
RS1555827653 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555827717 JAG1 Health Risk Pathogenic —
RS1555827729 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555827760 JAG1 Health Risk Pathogenic —
RS1555827769 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555827782 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555827789 JAG1 Health Risk Pathogenic Atypical coarctation of aorta, Alagille syndrome due to a JAG1 point mutation
RS1555827790 JAG1 Health Risk Pathogenic —
RS1555828173 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555828209 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555828250 JAG1 Health Risk Pathogenic —
RS1555828321 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555828546 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555828577 JAG1 Health Risk Pathogenic —
RS1555828589 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1555828640 JAG1 Health Risk Pathogenic —
RS1555828646 JAG1 Health Risk Pathogenic —
RS1555828652 JAG1 Health Risk Pathogenic —
RS1555828721 JAG1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1555828770 JAG1 Health Risk Pathogenic —
RS1555828843 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555829037 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555829039 JAG1 Health Risk Pathogenic —
RS1555829065 JAG1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1555829415 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555829660 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555830002 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1555830705 NDUFAF5 Health Risk Likely pathogenic Leber plus disease, Leber plus disease
RS1555830919 JAG1 Health Risk Pathogenic —
RS1555830922 JAG1 Health Risk Pathogenic —
RS1555830929 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555830976 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555831004 JAG1 Health Risk Conflicting classifications of pathogenicity Arteriohepatic dysplasia, Arteriohepatic dysplasia
RS1555831014 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1555831433 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1555832998 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS1555833051 HNF1B Health Risk Uncertain significance/Uncertain risk allele Monogenic diabetes, Maturity-onset diabetes of the young
RS1555833071 HNF1B Health Risk Pathogenic Hyperuricemic nephropathy, familial juvenile type 3
RS1555833144 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1555834773 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS1555836169 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1555836170 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Spastic tetraplegia and axial hypotonia
RS1555836520 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1555836803 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1555836889 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1555836950 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1555837082 KCNE2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 6, Cardiovascular phenotype
RS1555837861 ADAT3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-strabismus syndrome, Intellectual disability-strabismus syndrome
RS1555837911 CHRNA4 Health Risk Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1555839022 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1555839154 RPS19 Health Risk Pathogenic —
RS1555839161 RPS19 Health Risk Pathogenic —
RS1555839190 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1555839474 PLCB4 Health Risk Likely pathogenic —
RS1555841301 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, RPS19-related disorder
RS1555841307 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1555841356 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS1555841379 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS1555841598 RPS19 Health Risk Pathogenic —
RS1555841710 CLDN14 Health Risk Likely pathogenic —
RS1555841977 LOC102724428 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1555843178 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1555843601 CD79A Health Risk Likely pathogenic Agammaglobulinemia 3, autosomal recessive
RS1555843898 KCNE1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiovascular phenotype
RS1555843953 KCNE1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1555844006 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1555844063 CD79A Health Risk Likely pathogenic Agammaglobulinemia 3, autosomal recessive
RS1555844120 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1555844395 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1555844416 ADA Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS1555844600 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1555844616 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1555844617 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1555845120 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1555845122 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1555850151 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS1555850403 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1555850512 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
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