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
RS17851387 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS1785140781 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS17851590 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1785187053 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS17851923 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS1785199575 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1785207289 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS17852079 PRNP Health Risk Pathogenic Gerstmann-Straussler-Scheinker syndrome, Gerstmann-Straussler-Scheinker syndrome
RS17852127 SLC7A14 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS17852382 SLC16A1 Health Risk Conflicting classifications of pathogenicity Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
RS1785246943 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1785247939 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1785274253 AARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS17852824 MTM1 Health Risk Pathogenic —
RS1785291439 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1785297774 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1785303618 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS17853184 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, HPS5-related disorder
RS17853284 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, POR-related disorder
RS1785349774 AARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS17853622 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS1785363766 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1785365441 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1785372371 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1785382259 EGFR Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, EGFR-related lung cancer
RS1785386998 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS17853951 PDSS2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS17854076 EYA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1J
RS1785410333 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS17854138 BEST1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1785414812 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1785419483 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1785420264 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1785429311 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1785429855 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1785432611 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1785437689 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1785444329 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1785445977 PDE10A Health Risk Pathogenic —
RS17854478 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS17854600 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1785493309 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1785499146 KDELR2 Health Risk Pathogenic Osteogenesis imperfecta, type 21
RS1785500333 KDELR2 Health Risk Pathogenic Osteogenesis imperfecta, type 21
RS1785501068 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1785503102 KDELR2 Health Risk Pathogenic Osteogenesis imperfecta, type 21
RS1785505791 SFRP4 Health Risk Pathogenic —
RS1785577120 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS17855988 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1785613853 NT5C3A Health Risk Pathogenic —
RS1785623547 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1785628941 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS1785639514 BMPER Health Risk Pathogenic —
RS17856478 CCN3 Health Risk Conflicting classifications of pathogenicity —
RS1785701540 FAM20C Health Risk Likely pathogenic FAM20C-related disorder, FAM20C-related disorder
RS1785702810 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS1785707212 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS17857094 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1785714291 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastric cancer
RS1785715961 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1785723689 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1785728001 CDK13 Health Risk Likely pathogenic —
RS1785729477 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS1785745572 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS1785749704 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1785757537 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS1785786687 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1785819776 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1785823693 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Ovarian cancer
RS1785841426 GTF2H5 Health Risk Pathogenic Trichothiodystrophy 3, photosensitive
RS1785923084 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1785931346 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1785934565 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1785953131 AARS2 Health Risk Likely pathogenic AARS2-related disorder, AARS2-related disorder
RS1785964296 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1785972046 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1785973861 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Muscular dystrophy
RS1785975460 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1785976222 KDELR2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, type 21
RS17859933 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS1786035298 EARS2 Health Risk Pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS17860424 CASP8 Health Risk Pathogenic/Likely pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS17860530 MMP13 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Missouri type
RS17860583 MMP13 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia
RS1786068382 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1786068836 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1786070922 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1786184821 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS1786301728 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1786303769 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1786309286 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1786309735 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1786309995 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1786349461 AARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS1786357576 AIMP2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Leukodystrophy
RS1786358808 AIMP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1786435779 PKD1L1 Health Risk Pathogenic Heterotaxy, visceral
RS1786449736 SNX14 Health Risk Likely pathogenic Cerebellar ataxia, Global developmental delay
RS1786487832 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome 3
RS1786504555 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
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