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
RS1289961661 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1290001124 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1290002563 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1290008988 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS1290022379 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS1290023611 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1290025738 ACAN Health Risk Likely pathogenic —
RS1290033369 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1290058471 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS1290071275 IL12B Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS1290073918 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS1290078234 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1290079536 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1290087666 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1290100739 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1290109600 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1O
RS1290116861 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1290121054 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1290121403 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1290125655 TBP Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 17, Spinocerebellar ataxia type 17
RS1290134782 EIF2B5 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with vanishing white matter 5, Vanishing white matter disease
RS1290169467 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS1290183098 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS1290195833 TRDN Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 1
RS1290215290 TSC1 Health Risk Pathogenic —
RS1290241933 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS1290261668 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1290271608 VPS13A Health Risk Likely pathogenic —
RS1290272212 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1290276055 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1290295453 USH1C Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS1290319110 EMC1 Health Risk Pathogenic Cerebellar atrophy, visual impairment
RS1290323940 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1290334951 USH2A Health Risk Pathogenic —
RS1290346524 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1290349619 CTRC Health Risk Pathogenic/Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS1290351732 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1290372649 SLC12A3 Health Risk Conflicting classifications of pathogenicity —
RS1290398685 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1290411154 KIDINS220 Health Risk Pathogenic —
RS1290416270 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, UV-sensitive syndrome 2
RS1290417835 SMN1 Health Risk Pathogenic Spinal muscular atrophy, Spinal muscular atrophy
RS1290420698 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Night blindness
RS1290441976 FRAS1 Health Risk Likely pathogenic —
RS1290442223 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1290445670 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS1290453614 ERCC6L2 Health Risk Pathogenic —
RS1290466457 FREM2 Health Risk Likely pathogenic FREM2-related disorder, FREM2-related disorder
RS1290469936 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS1290471450 LOXHD1 Health Risk Pathogenic —
RS1290474919 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1290478839 FBN1 Health Risk Conflicting classifications of pathogenicity 8 conditions, Familial thoracic aortic aneurysm and aortic dissection
RS1290501462 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1290506364 BUB1B Health Risk Likely pathogenic Mosaic variegated aneuploidy syndrome, Mosaic variegated aneuploidy syndrome
RS1290514684 CPLANE1 Health Risk Pathogenic —
RS1290519111 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1290522460 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1290537273 RAI1 Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1290539447 LOXHD1 Health Risk Pathogenic —
RS1290545249 CFD Health Risk Pathogenic —
RS1290546936 MYO5B Health Risk Pathogenic —
RS1290548622 TRPM1 Health Risk Likely pathogenic —
RS1290554462 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1290558249 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1290567099 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS1290572246 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS12905755 WDR72 Health Risk Conflicting classifications of pathogenicity —
RS1290594550 PIEZO1 Health Risk Likely pathogenic —
RS1290597719 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1290644032 USH2A Health Risk Likely pathogenic —
RS1290655316 FBXO7 Health Risk Pathogenic/Likely pathogenic Parkinsonian-pyramidal syndrome, FBXO7-related disorder
RS1290655946 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1290682648 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1290684098 TMC1 Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1290684221 NDUFV1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS1290698257 GJB2 Health Risk Conflicting classifications of pathogenicity —
RS1290729871 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1290732977 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Inborn genetic diseases
RS1290737564 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS1290737803 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1290740194 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1290761535 OBSCN Health Risk Pathogenic —
RS1290768701 HUWE1 Health Risk Conflicting classifications of pathogenicity Abnormal corpus callosum morphology, Intellectual disability
RS1290770390 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS1290800821 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1290803035 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1290836394 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1290849675 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1290859259 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1290867734 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1290868034 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1290879180 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1290880136 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1290915929 PPP1R13L Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1290922060 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1290927406 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1290935051 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1290945516 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1290954710 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1290982641 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
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