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
RS1440532058 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS144053672 HIBCH Health Risk Conflicting classifications of pathogenicity 3-hydroxyisobutyryl-CoA hydrolase deficiency, HIBCH-related disorder
RS144053789 MYO3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYO3A-related disorder
RS1440538657 CNNM4 Health Risk Pathogenic —
RS144053918 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related disorder
RS1440541889 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS144054280 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Holoprosencephaly 11
RS144054353 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS1440543613 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS144054579 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS144054688 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, SLC22A5-related disorder
RS144054758 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, TRMU-related disorder
RS144054843 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS1440549868 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS144055004 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144055758 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1440560303 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1440561167 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS144056494 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS144056525 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS144057476 DES Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy
RS144057590 DDX41 Health Risk Pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder
RS144057685 EIF2AK3 Health Risk Conflicting classifications of pathogenicity —
RS1440582784 COL27A1 Health Risk Pathogenic —
RS1440584630 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS144058677 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Inborn genetic diseases
RS1440596151 PCSK9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS144060196 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS144060377 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Malignant tumor of esophagus
RS144060383 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS144060757 SERPINA3 Health Risk Conflicting classifications of pathogenicity SERPINA3-related disorder, SERPINA3-related disorder
RS1440619177 CNGB3 Health Risk Likely pathogenic —
RS1440619293 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1440624217 MSH3 Health Risk Likely pathogenic —
RS1440628720 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS144063215 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS1440633758 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS144063499 FBXO11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144063598 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS144064082 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1440642205 CCDC88C Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS144064367 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1440648894 SGCD Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS1440652791 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS144065614 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS144065807 FRAS1 Health Risk Conflicting classifications of pathogenicity —
RS1440658479 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS1440659826 GLRB Health Risk Conflicting classifications of pathogenicity Hyperekplexia 2, Hyperekplexia 2
RS1440661352 DUOX2 Health Risk Pathogenic —
RS1440666801 TSPEAR Health Risk Pathogenic/Likely pathogenic —
RS144066768 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS144067344 KIFBP Health Risk Conflicting classifications of pathogenicity Goldberg-Shprintzen syndrome, KIFBP-related disorder
RS144067910 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS144067930 GALNS Health Risk Conflicting classifications of pathogenicity Morquio syndrome, Mucopolysaccharidosis
RS144068722 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL27A1-related disorder
RS144068846 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS1440688652 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1440692352 TET2 Health Risk Pathogenic —
RS144069395 GJA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS1440693988 LZTR1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS144069838 RPS19 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1440711824 HSD17B3 Health Risk Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS144071404 CYB5R3 Health Risk Pathogenic/Likely pathogenic Hereditary methemoglobinemia, Deficiency of cytochrome-b5 reductase
RS144071626 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS1440718209 SPTA1 Health Risk Likely pathogenic —
RS144072210 VWF Health Risk Conflicting classifications of pathogenicity Abnormality of coagulation, von Willebrand disease type 3
RS144072850 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1440735433 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1440735830 SHANK3 Health Risk Conflicting classifications of pathogenicity Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS144073611 MECR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144074554 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS144074675 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS144074930 GDF5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1440755101 NSD2 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS144076460 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS1440769928 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS144077391 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS144077396 HIVEP2 Health Risk Conflicting classifications of pathogenicity —
RS144077436 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS144077712 TRIP4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144078033 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS144078282 CLPB Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS144078604 MAGI2 Health Risk Conflicting classifications of pathogenicity —
RS144078893 ADAMTS2 Health Risk Conflicting classifications of pathogenicity ADAMTS2-related disorder, Inborn genetic diseases
RS1440795111 POC1B Health Risk Pathogenic —
RS144079536 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS144080386 PADI3 Health Risk Conflicting classifications of pathogenicity Uncombable hair syndrome 1, PADI3-related disorder
RS144081297 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, CPLANE1-related disorder
RS144081367 MOCOS Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Xanthinuria type II
RS144081417 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS144081869 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1440823660 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1440824352 ABCA4 Health Risk Pathogenic —
RS144082723 DENND3 Health Risk Conflicting classifications of pathogenicity —
RS144082872 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Peroxisome biogenesis disorder 4A (Zellweger)
RS144083363 UNG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS144083614 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder
RS1440838364 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS144083909 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS1440841207 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
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