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
RS1409386171 SLC38A8 Health Risk Likely pathogenic —
RS1409406468 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1409412200 PRDM5 Health Risk Pathogenic PRDM5-related disorder, PRDM5-related disorder
RS140941300 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Inborn genetic diseases
RS140941344 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS1409414498 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1409419238 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS1409419929 LZTR1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS140942173 BPTF Health Risk Conflicting classifications of pathogenicity BPTF-related disorder, Inborn genetic diseases
RS140942230 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS140942886 MTRFR Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Combined oxidative phosphorylation defect type 7
RS140942979 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS140943156 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS140943202 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS140943787 RIMS1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS140943831 ACTG2 Health Risk Pathogenic/Likely pathogenic Visceral myopathy 1, Visceral myopathy 1
RS140943896 TUBB1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, isolated
RS140944718 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Inborn genetic diseases
RS140945152 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS140945339 USH1C Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS140945592 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS140946753 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS1409484433 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS140948465 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS140948493 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1409490389 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS140949360 QDPR Health Risk Conflicting classifications of pathogenicity Dihydropteridine reductase deficiency, QDPR-related disorder
RS140949383 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz
RS140949483 AGTR2 Health Risk Conflicting classifications of pathogenicity —
RS140949805 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS140950220 COL27A1 Health Risk Pathogenic Steel syndrome, COL27A1-related disorder
RS1409503203 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS140950528 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Bruck syndrome 1
RS1409506586 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Congenital myasthenic syndrome
RS140950764 NBAS Health Risk Conflicting classifications of pathogenicity NBAS-related disorder, Inborn genetic diseases
RS140950898 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS140951453 TERT Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Pulmonary fibrosis and/or bone marrow failure
RS140951668 GPD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140952412 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS140952583 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS140952803 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Inborn genetic diseases
RS140953779 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS140954477 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS140954748 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS140954784 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS140955110 LAMC3 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Inborn genetic diseases
RS140955483 CD96 Health Risk Conflicting classifications of pathogenicity —
RS140956564 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS1409565648 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS140959406 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS140959695 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS1409597701 PGAP2 Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
RS140959967 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1409600874 TBCD Health Risk Pathogenic/Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS140960269 GIPC3 Health Risk Conflicting classifications of pathogenicity —
RS1409603424 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1409607754 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS1409618249 CSPP1 Health Risk Pathogenic Joubert syndrome 21, CSPP1-related disorder
RS1409618843 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1409621336 CCDC88C Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS140962690 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1409629545 ACTA2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS140963147 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS140963213 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Neutropenia
RS140963290 SUCLA2 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS140963906 TNNI3K Health Risk Conflicting classifications of pathogenicity TNNI3K-related disorder, TNNI3K-related disorder
RS140964621 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS140965835 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1409660715 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS140966324 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS140966353 ZP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1409671867 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS140967266 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS140967612 NRROS Health Risk Conflicting classifications of pathogenicity Seizures, early-onset
RS140967677 TPRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140967744 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1409680993 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1409681779 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS140968382 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related disorder, Pierson syndrome
RS1409684471 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS1409688898 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1409690582 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1409693501 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS140969547 DICER1 Health Risk Conflicting classifications of pathogenicity —
RS140970354 PLG Health Risk Conflicting classifications of pathogenicity —
RS140970422 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS140970730 PLAA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140971065 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, carboxymethyl-dextran-A2-gadolinium-DOTA
RS140971270 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS1409715354 DNAH9 Health Risk Likely pathogenic DNAH9-related disorder, DNAH9-related disorder
RS1409716731 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS140972409 UBR1 Health Risk Likely pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS1409734825 GALNT3 Health Risk Pathogenic —
RS1409741643 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS140975280 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS1409755064 PLK4 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1409755826 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Left ventricular noncompaction 10
RS140975593 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS140976278 XYLT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Inborn genetic diseases
RS1409764603 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
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