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
RS779287673 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS779289416 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS779289964 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SAMD9-related disorder
RS779290365 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS779290495 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder
RS779291537 INPPL1 Health Risk Pathogenic Opsismodysplasia, Opsismodysplasia
RS779294007 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS779296101 PIGB Health Risk Pathogenic Developmental and epileptic encephalopathy, 80
RS779296683 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS779297339 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS779298360 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS779298889 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, INVS-related disorder
RS779300628 RERE Health Risk Conflicting classifications of pathogenicity —
RS779301810 RAX2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 6, Retinal dystrophy
RS779301847 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS779302145 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS779302353 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS779302645 SERAC1 Health Risk Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS779302959 BCLAF1 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS779303083 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS779303324 LRP5 Health Risk Pathogenic —
RS779303486 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Congenital portosystemic shunt
RS779303490 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS779304750 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS779304920 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS779304953 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS779306054 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS779306249 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS779306532 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779306921 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS779308700 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779311149 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779311707 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS779312077 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS779312310 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS77931234 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Epileptic spasm
RS779313390 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS779313800 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS779314198 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS779314594 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS779315456 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS779315825 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS779316628 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS779317146 MYORG Health Risk Likely pathogenic MYORG-related disorder, MYORG-related disorder
RS779317615 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS779319281 GHR Health Risk Pathogenic —
RS779320845 TAF1 Health Risk Conflicting classifications of pathogenicity TAF1-related disorder, TAF1-related disorder
RS779321133 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779321230 ACTL6B Health Risk Likely pathogenic —
RS779321661 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS77932196 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS779321975 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS779323387 DNMT3A Health Risk Likely pathogenic See cases, See cases
RS779323689 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS779324355 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS779324498 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS779326282 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS779326570 WNT10B Health Risk Pathogenic Tooth agenesis, selective
RS779326725 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS779326746 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS779327684 SCN9A Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS779328596 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS779330130 CARMIL2 Health Risk Pathogenic —
RS779331475 MMUT Health Risk Pathogenic —
RS779331758 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS779331792 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS779331797 BCS1L Health Risk Pathogenic GRACILE syndrome, Pili torti-deafness syndrome
RS779331877 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS779332260 AARS2 Health Risk Likely pathogenic Inborn genetic diseases, Leukoencephalopathy
RS779332376 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS779334298 RGS9 Health Risk Pathogenic —
RS779334655 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS779334694 SETD1A Health Risk Conflicting classifications of pathogenicity Epilepsy, early-onset
RS779335085 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS779335373 SLC6A19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779335579 ERLIN2 Health Risk Pathogenic Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18
RS779336261 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
RS779336305 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS779336736 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS779336886 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Limb-girdle muscular dystrophy
RS779337270 ATP8A2 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia, intellectual disability
RS779337546 CEP78 Health Risk Pathogenic —
RS779337715 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS779337831 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS779338296 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS779338723 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS779338945 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS779339230 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, HMGCL-related disorder
RS779340088 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS779340209 ADNP Health Risk Pathogenic Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS779340990 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS779344464 VPS13D Health Risk Pathogenic —
RS779344587 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS779346494 NOD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Blau syndrome
RS779346604 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS77934668 PDE11A Health Risk Conflicting classifications of pathogenicity PDE11A-related disorder, PDE11A-related disorder
RS779347174 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS779347895 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Smith-Magenis syndrome
RS77934864 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS779349059 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 17
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