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
RS187332731 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS187336363 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1873370871 ATP2A2 Health Risk Likely pathogenic Keratosis follicularis, Keratosis follicularis
RS187340581 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS187343742 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS187345878 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS187350468 TOP2B Health Risk Conflicting classifications of pathogenicity TOP2B-related disorder, TOP2B-related disorder
RS187354107 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1873545198 UBR1 Health Risk Pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS187354891 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS187358458 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS187365142 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS187370816 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS187372416 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS187377817 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS187380128 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS1873861004 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1873865063 CNPY2 Health Risk Likely pathogenic Abnormality of the face, Craniosynostosis syndrome
RS187391312 MICALL2 Health Risk Conflicting classifications of pathogenicity —
RS187392462 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS187393245 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS187394074 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS187396540 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Juvenile nephropathic cystinosis
RS187399485 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS187400726 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS187401185 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Congenital myasthenic syndrome 16
RS1874016146 SMARCC2 Health Risk Likely pathogenic —
RS187404409 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1874072309 MED13L Health Risk Pathogenic/Likely pathogenic Intellectual disability, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1874072493 MED13L Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS187410988 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS187418052 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS187423999 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS187424345 ETFB Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS187425614 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS187427261 SZT2 Health Risk Conflicting classifications of pathogenicity Severe hydrocephalus, Encephalocele
RS187433682 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel syndrome
RS187434401 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Neuronopathy
RS187442951 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1874440714 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS187447337 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1874485021 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS187451323 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS187453092 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1874533541 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1874535712 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS187453572 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS1874539947 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1874541064 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1874543567 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1874547168 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1874549626 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1874550090 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS187460377 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS187466318 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS1874691210 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1874691554 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1874693635 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1874694965 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1874704791 POU4F1 Health Risk Pathogenic Ataxia, intention tremor
RS1874712158 SLITRK6 Health Risk Pathogenic —
RS1874733519 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1874735553 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1874741770 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1874754405 POU4F1 Health Risk Pathogenic Ataxia, intention tremor
RS187484893 TTC8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Bardet-Biedl syndrome 8
RS187491488 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS187494806 MMACHC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cobalamin C disease
RS187498805 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kaposi sarcoma
RS187500777 HK1 Health Risk Likely pathogenic HK1-related disorder, Hemolytic anemia due to hexokinase deficiency
RS187501631 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS187506285 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1875101118 NDUFA12 Health Risk Likely pathogenic —
RS187510989 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS187511292 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS1875117878 B3GLCT Health Risk Pathogenic Peters plus syndrome, Peters plus syndrome
RS187512156 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS187512697 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Inborn genetic diseases
RS1875158272 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1875163630 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS187517894 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS187522588 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS1875230062 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS187525386 MAP3K15;PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS187526749 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder
RS1875318087 PAN2 Health Risk Likely pathogenic PAN2-related multiple congenital anomalies syndrome, PAN2-related multiple congenital anomalies syndrome
RS187531872 SCN5A Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS187532717 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS187533108 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS187534119 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS187535289 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS1875353511 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1875354018 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1875355050 PAH Health Risk Pathogenic —
RS1875366372 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1875368328 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1875371404 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1875371722 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1875372846 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1875377960 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
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