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
RS1326771857 ALG5 Health Risk Likely pathogenic Polycystic kidney disease 7, Polycystic kidney disease 7
RS1326779034 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, 6 conditions
RS1326795798 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1326800279 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1326810030 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS1326813345 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome 8
RS1326826096 UBR1 Health Risk Likely pathogenic —
RS1326827713 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1326829113 MTHFD1 Health Risk Pathogenic —
RS1326841833 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1326870463 SLC1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 41
RS1326880981 PPARG Health Risk Likely pathogenic CAROTID INTIMAL MEDIAL THICKNESS 1, PPARG-related familial partial lipodystrophy
RS1326881059 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1326889544 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1326895760 ADGRV1 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS1326903845 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, LIPA-related disorder
RS1326930389 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1326932143 ABCB4 Health Risk Pathogenic Low phospholipid associated cholelithiasis, Progressive familial intrahepatic cholestasis type 3
RS1326942763 KCNC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 13
RS1326948780 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1326950042 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1326972655 CHM Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1326976532 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Inborn genetic diseases
RS1327002160 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1327006026 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1327017125 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1
RS1327023585 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1327025508 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS1327029855 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1327031845 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS1327044106 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1327048960 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1327055239 CYP11B1 Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase
RS1327059542 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1327060248 METTL23 Health Risk Likely pathogenic —
RS1327061374 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1327062642 TULP1 Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1327086366 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1327088096 SHANK3 Health Risk Pathogenic —
RS1327097914 F9 Health Risk Pathogenic Warfarin sensitivity, X-linked
RS1327099376 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS1327100271 VPS13A Health Risk Likely pathogenic —
RS1327104134 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Coffin-Lowry syndrome, Intellectual disability
RS1327145604 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1327164444 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Smith-Magenis syndrome
RS1327176357 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1327201504 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS1327245073 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS1327247430 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1327272043 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS1327282449 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS1327286039 SPTB Health Risk Pathogenic/Likely pathogenic —
RS1327297003 EIF2AK4 Health Risk Likely pathogenic Pulmonary venoocclusive disease 1, Pulmonary venoocclusive disease 1
RS1327297188 KIF1A Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS1327297904 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1327299547 CFAP43 Health Risk Pathogenic Normal pressure hydrocephalus, Normal pressure hydrocephalus
RS1327304427 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1327307171 NADSYN1 Health Risk Pathogenic Vertebral, cardiac
RS1327315227 TRPV6 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism, transient neonatal
RS1327357566 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1327361418 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1327363415 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1327382646 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1327399690 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1327401976 OXCT1 Health Risk Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS1327414405 PKD1;PKD1-AS1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1327414828 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1327440899 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS1327470716 MADD Health Risk Likely pathogenic Deeah syndrome, Deeah syndrome
RS1327484784 CACNA1E Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1327486572 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS1327489348 WDR35 Health Risk Pathogenic Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS1327490224 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1327512768 TUBGCP4 Health Risk Pathogenic —
RS1327516147 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Drash syndrome
RS1327520738 NEK9 Health Risk Likely pathogenic Arthrogryposis, Perthes disease
RS1327527158 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inborn genetic diseases
RS1327562179 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1327576450 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1327583103 WDR19 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 5, Spermatogenic failure 72
RS1327595249 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1327598333 FLG Health Risk Pathogenic —
RS1327610437 ARID1A Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS1327627870 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1327636983 LTBP2 Health Risk Likely pathogenic Weill-Marchesani syndrome 3, Glaucoma 3
RS1327643521 GRIN2A Health Risk Likely pathogenic —
RS1327651159 CCDC146 Health Risk Pathogenic Male infertility with spermatogenesis disorder due to single gene mutation, Spermatogenic failure 94
RS1327654017 SHANK2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS1327659310 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS1327664377 DYNC1H1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Progressive muscle weakness
RS1327666670 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1327684674 LAMA3 Health Risk Likely pathogenic —
RS1327701948 BCORL1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1327733187 SCN8A Health Risk Likely pathogenic —
RS1327737533 MNX1 Health Risk Pathogenic —
RS1327737879 ADGRV1 Health Risk Pathogenic —
RS1327756504 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1327758535 MYPN Health Risk Likely pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS1327762745 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1327772058 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
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