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
RS1568724130 FAM20A Health Risk Likely pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS1568724567 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1568725026 ACTN4 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS1568725951 ABHD12 Health Risk Pathogenic Cone dystrophy, Cone dystrophy
RS1568731279 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus
RS1568731526 GDF5 Health Risk Pathogenic/Likely pathogenic Grebe syndrome, Grebe syndrome
RS1568733815 AVP Health Risk Pathogenic —
RS1568741207 HNF4A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1568741527 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1568748859 ELMO2 Health Risk Likely pathogenic Primary intraosseous venous malformation, Primary intraosseous venous malformation
RS1568757730 DPM1 Health Risk Pathogenic Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS1568760224 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS1568761792 CTSA Health Risk Pathogenic —
RS1568762986 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1568763104 PLCB4 Health Risk Pathogenic/Likely pathogenic Uveal melanoma, Ocular melanocytosis
RS1568786761 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS1568789814 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1568791022 JAG1 Health Risk Pathogenic —
RS1568791393 JAG1 Health Risk Pathogenic —
RS1568791694 JAG1 Health Risk Likely pathogenic Arteriohepatic dysplasia, Arteriohepatic dysplasia
RS1568791920 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568792051 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568792125 JAG1 Health Risk Pathogenic —
RS1568792238 JAG1 Health Risk Pathogenic/Likely pathogenic —
RS1568792286 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568792344 JAG1 Health Risk Pathogenic —
RS1568793232 JAG1 Health Risk Pathogenic —
RS1568793265 JAG1 Health Risk Pathogenic —
RS1568793309 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568793670 JAG1 Health Risk Pathogenic —
RS1568794128 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568794159 JAG1 Health Risk Pathogenic —
RS1568795820 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568796003 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS1568796158 JAG1 Health Risk Pathogenic —
RS1568796236 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS1568796241 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568796298 JAG1 Health Risk Pathogenic —
RS1568796883 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568798024 JAG1 Health Risk Pathogenic —
RS1568798248 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1568798289 JAG1 Health Risk Pathogenic —
RS1568798388 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568801068 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568801096 JAG1 Health Risk Pathogenic —
RS1568801716 CD79A Health Risk Pathogenic Agammaglobulinemia 3, autosomal recessive
RS1568806160 CEP250 Health Risk Pathogenic/Likely pathogenic CEP250-related disorder, CEP250-related disorder
RS1568807044 JAG1 Health Risk Pathogenic —
RS1568807161 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1568807297 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, SOD1-related disorder
RS1568807314 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568807342 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568807400 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568807463 JAG1 Health Risk Pathogenic —
RS1568807483 JAG1 Health Risk Pathogenic —
RS1568809149 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568809169 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568809172 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568810275 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568810316 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568810641 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568810660 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568810686 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568810715 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568810771 SOD1 Health Risk Likely pathogenic Spastic tetraplegia and axial hypotonia, progressive
RS1568810789 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568811366 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568811372 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568811423 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568811426 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568811445 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568811454 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568811489 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568811515 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1568811520 SOD1 Health Risk Likely pathogenic —
RS1568820302 CEP250 Health Risk Likely pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS1568822376 ZNF335 Health Risk Pathogenic Microcephalic primordial dwarfism due to ZNF335 deficiency, Microcephalic primordial dwarfism due to ZNF335 deficiency
RS1568823467 EDN3 Health Risk risk factor Hirschsprung disease, susceptibility to
RS1568823517 EDN3 Health Risk Pathogenic Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
RS1568835906 KCNE1 Health Risk Likely pathogenic Long QT syndrome 5, Long QT syndrome 5
RS1568836235 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1568836457 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 5, Long QT syndrome
RS1568836956 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 5, Long QT syndrome
RS1568839335 CLDN14 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS1568844677 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1568845361 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1568853466 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS1568857280 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS1568858210 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1568858517 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1568858567 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1568864658 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1568864697 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS1568865283 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS1568865669 DNAAF3 Health Risk Likely pathogenic Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 2
RS1568866374 SALL4 Health Risk Pathogenic/Likely pathogenic Oculootoradial syndrome, Duane-radial ray syndrome
RS1568879914 ITGB2 Health Risk Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1568883795 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1568890288 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1568893029 COL18A1 Health Risk Pathogenic —
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