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
RS772492791 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS772492972 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS772494345 RYR1 Health Risk Pathogenic/Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion
RS772496010 B3GAT3 Health Risk Conflicting classifications of pathogenicity Larsen-like syndrome, B3GAT3 type
RS772496459 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS7724969 SGCD Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of delta-sarcoglycan, Qualitative or quantitative defects of delta-sarcoglycan
RS772497399 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS772498224 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS772498945 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Bronchiectasis with or without elevated sweat chloride 2
RS772499410 ASNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772501269 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS772501510 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
RS772501604 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS772502525 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS772504695 B3GLCT Health Risk Likely pathogenic —
RS772505081 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS772506944 SCP2 Health Risk Pathogenic/Likely pathogenic Sterol carrier protein 2 deficiency, Sterol carrier protein 2 deficiency
RS772506992 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS772507975 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS772508077 TACR3 Health Risk Pathogenic —
RS772508476 SCN5A Health Risk Conflicting classifications of pathogenicity 8 conditions, Brugada syndrome 1
RS772509210 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS772510686 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS772510691 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS772510917 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS772512477 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS772512478 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS772512727 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS772513660 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772514245 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS772515267 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS772515802 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS772517977 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS772518056 FCSK Health Risk Pathogenic/Likely pathogenic Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2
RS772518280 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS772518653 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772518849 ABCA2 Health Risk Conflicting classifications of pathogenicity —
RS772518921 SOX10 Health Risk Likely pathogenic —
RS772520618 ACTL6B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 76
RS772520703 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS772521110 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS772521985 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS772523567 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS772523876 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS772525026 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS772525350 LRRC56 Health Risk Conflicting classifications of pathogenicity —
RS772526084 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS772527201 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS772527384 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS772527603 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS772528863 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS772529339 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS772529811 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772530256 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS772530809 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772530975 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS772532094 GLI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772533643 THOC6 Health Risk Pathogenic/Likely pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS772533807 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS772534040 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772534106 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS772534528 WDR35 Health Risk Likely pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS772536111 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS772536466 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, WDPCP-related disorder
RS772536599 MYO15A Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS772537556 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS772538094 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Achromatopsia 4
RS772538455 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS772538462 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS772539351 RLBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77254040 DNASE1 Health Risk Likely pathogenic Systemic lupus erythematosus, Systemic lupus erythematosus
RS772540473 CDC14A Health Risk Pathogenic —
RS772540800 TBC1D8B Health Risk Pathogenic Nephrotic syndrome, type 20
RS772541454 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS772542981 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Atrial septal defect 7
RS772543040 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772543826 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS772543889 DOCK6 Health Risk Pathogenic —
RS772543894 NEK8 Health Risk Likely pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS772544112 SDCCAG8 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS772544842 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS772546251 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS772547714 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS772548282 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease type I
RS772548770 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS772549804 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS772549903 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS772549996 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS772550148 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS772550463 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS772551056 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS772551383 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS772551661 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS772551736 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS772552059 MVK Health Risk Conflicting classifications of pathogenicity —
RS772552324 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS772552501 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS772552529 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg
RS772552898 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS772554352 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
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