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
RS151235408 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS151236121 PMPCB Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 6, PMPCB-related disorder
RS151238705 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, DSG4-related disorder
RS151239539 KCTD1 Health Risk Conflicting classifications of pathogenicity —
RS151239794 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Inborn genetic diseases
RS151239950 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS151241066 IARS2 Health Risk Likely pathogenic Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
RS151241589 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS151241634 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS151242354 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, ERCC6-related disorder
RS151243201 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS151243930 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS151244108 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS151244310 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS151244358 WFS1 Health Risk Conflicting classifications of pathogenicity Cataract 41, Wolfram syndrome 1
RS151244472 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS151244742 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS151245897 LARS1 Health Risk Conflicting classifications of pathogenicity —
RS151246790 INSR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151246825 ASTN1 Health Risk Conflicting classifications of pathogenicity Abnormal corpus callosum morphology, Abnormal corpus callosum morphology
RS151247098 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS151247614 CLCC1 Health Risk Conflicting classifications of pathogenicity —
RS151247807 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS151247980 PDHB Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS151248026 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Inborn genetic diseases
RS151248633 NSDHL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NSDHL-related disorder
RS151249006 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS151249432 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS151249558 KIF14 Health Risk Likely pathogenic Joubert syndrome and related disorders, KIF14-related disorder
RS151250769 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS151250905 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS151251039 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS151251082 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS151251262 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS151252449 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS151254406 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, DSG4-related disorder
RS151254510 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151255440 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS151256720 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS151256895 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS151257291 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS151257298 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS151257924 CLCN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151258227 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS151258293 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS151258576 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS151259375 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS151260330 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 10
RS151260964 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS151261004 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome
RS151261045 THUMPD1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS151261408 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS151261888 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS151263329 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS151264767 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome
RS151265913 DNAJC5 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS151266052 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS151267286 PMVK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Porokeratosis 1
RS151267430 PDCD10 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 3, PDCD10-related disorder
RS151267865 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS151268188 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS151268930 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS151268950 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS151269703 MYO1A Health Risk Conflicting classifications of pathogenicity Congenital diarrhea, Diarrhea 15
RS151271674 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS151271754 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, CPT1A-related disorder
RS151272083 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS151272992 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Inborn genetic diseases
RS151273553 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS151273972 CEMIP Health Risk Conflicting classifications of pathogenicity —
RS151274071 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Autoinflammatory syndrome
RS151274810 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS151275325 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS151275559 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151275562 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS151275800 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Inborn genetic diseases
RS151276652 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS151276788 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS151278283 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS151279101 NDUFS1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS151279194 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, See cases
RS151279562 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, PHKA1-related disorder
RS151281288 ACE Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS151282702 KRT16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151282774 LIFR Health Risk Conflicting classifications of pathogenicity LIFR-related disorder, LIFR-related disorder
RS151282801 MYPN Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1KK
RS151283151 PLPBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151283330 ERMARD Health Risk Conflicting classifications of pathogenicity ERMARD-related disorder, ERMARD-related disorder
RS151284263 WNT10B Health Risk Conflicting classifications of pathogenicity —
RS151284467 TRPV3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151286353 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-related disorder
RS151286594 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CAPN5-related disorder
RS151286835 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS151287187 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS151287975 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS151288115 KNL1 Health Risk Conflicting classifications of pathogenicity —
RS151288786 ABCB7 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia with ataxia, Inborn genetic diseases
RS151289203 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS151291188 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS151291264 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
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