SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS991981668 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS991996366 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS992032116 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS992038336 LIFR Health Risk Pathogenic —
RS992042707 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, LRIT3-related disorder
RS992088282 MYO15A Health Risk Pathogenic —
RS992092720 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS992113946 RPE65 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS992119026 ATP2A1 Health Risk Likely pathogenic Brody myopathy, Brody myopathy
RS992128517 PIKFYVE Health Risk Pathogenic Fleck corneal dystrophy, Fleck corneal dystrophy
RS992161646 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS992189342 MYZAP Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiomyopathy
RS992194912 NTHL1 Health Risk Conflicting classifications of pathogenicity —
RS992197854 CUL4B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked intellectual disability Cabezas type
RS992204564 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS992259659 CLCN1 Health Risk Likely pathogenic —
RS992278231 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS992290703 TTC19 Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS992305960 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS992318824 CSF3R Health Risk Pathogenic/Likely pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS992324423 NEK1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS992326794 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS992336192 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS992368305 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS992392323 TPO Health Risk Likely pathogenic TPO-related disorder, TPO-related disorder
RS992393537 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, DYNC1H1-related disorder
RS992409739 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS992473797 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS992479287 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS992491091 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS992604547 COL1A1 Health Risk Likely pathogenic —
RS992608425 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS992621550 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS992627026 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS992662337 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS992677795 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS992677972 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS992728216 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS992789522 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS992793284 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS992795118 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS992814593 INPP5E Health Risk Likely pathogenic Rod-cone dystrophy, Joubert syndrome
RS992828062 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS992856733 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS992863438 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS992877769 PNPT1 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Global developmental delay
RS992883082 FLVCR1 Health Risk Pathogenic —
RS992919450 AARS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS992933965 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS992962962 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS992965475 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS992976251 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS992987667 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS993001712 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS993022333 KIT Health Risk Pathogenic Cutaneous mastocytosis, Melanoma
RS993057859 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS993096170 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS993103826 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS993106557 POU3F3 Health Risk Conflicting classifications of pathogenicity —
RS993107184 MARVELD2 Health Risk Likely pathogenic —
RS993108436 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
RS993185407 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS993196576 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS993209212 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS993240093 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS993279874 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS993283861 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS993289778 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS993297723 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS993340577 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS993370830 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS993394322 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome 7, Meckel-Gruber syndrome
RS993417750 MTMR14 Health Risk Conflicting classifications of pathogenicity —
RS993420527 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS993464239 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS993479544 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS993498251 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS993522134 POT1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS993539085 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS993545618 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS993595530 SLC26A3 Health Risk Pathogenic —
RS993614997 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS993687029 DONSON Health Risk Pathogenic/Likely pathogenic Microcephaly, short stature
RS993809972 MYO15A Health Risk Likely pathogenic Ear malformation, Ear malformation
RS993813895 HDAC6 Health Risk Conflicting classifications of pathogenicity —
RS993836469 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS993910380 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS993936431 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS993963334 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS994001880 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS994007314 IFIH1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS994026153 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS994088488 MTFMT Health Risk Conflicting classifications of pathogenicity —
RS994146384 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS994170964 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS994177395 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS994218778 SLC5A6 Health Risk Pathogenic Neurodegeneration, infantile-onset
RS994248373 BEST1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS994272082 CDHR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS994319321 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
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