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
RS1241018958 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1241034250 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS1241045861 SLC5A5 Health Risk Likely pathogenic —
RS1241049372 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1241071909 SLC39A4 Health Risk Pathogenic —
RS1241072742 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1241074832 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1241075295 SCARF2 Health Risk Likely pathogenic Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS1241079044 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1241090598 ZMYM2 Health Risk Pathogenic —
RS1241142887 DLG3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1241143088 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1241158120 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1241180076 COL6A2 Health Risk Pathogenic BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE
RS1241187163 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1241201095 MAK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS1241223548 IFT80 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS1241272236 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1241301882 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1241310204 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1241312606 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1241364288 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1241365457 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS1241374922 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1241378191 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS1241379065 KPNA7 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 17, Oocyte/zygote/embryo maturation arrest 17
RS1241388377 KCNQ2 Health Risk Likely pathogenic Seizure, Seizure
RS1241404192 COL4A4 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Hematuria
RS1241419372 COL18A1 Health Risk Pathogenic —
RS1241455019 ALAS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1241474192 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1241478218 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS1241484464 SI Health Risk Likely pathogenic —
RS1241492890 MVK Health Risk Pathogenic Porokeratosis 3, disseminated superficial actinic type
RS1241511703 PLAA Health Risk Likely pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS1241533665 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1241537518 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS1241577019 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS1241595912 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease
RS1241603111 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1241621325 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1241632021 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1241637351 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1241667469 KLHL7 Health Risk Likely pathogenic —
RS1241692940 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS1241698978 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1241704923 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1241706645 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1241709692 DDR2 Health Risk Pathogenic —
RS1241722581 SLC45A2 Health Risk Pathogenic —
RS1241744534 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1241745103 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1241745371 FRAS1 Health Risk Pathogenic —
RS1241752177 CYFIP2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 65
RS1241755449 ASPM Health Risk Pathogenic —
RS1241756596 UNC80 Health Risk Likely pathogenic Hypotonia, infantile
RS1241760732 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1241804364 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1241810634 VPS13A Health Risk Pathogenic —
RS1241813534 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1241888415 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1241896966 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1241903068 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1241903352 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS1241905770 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1241910381 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS1241934841 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS1241935771 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS12419447 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1241945430 ITGA8 Health Risk Likely pathogenic —
RS1241961364 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1241965322 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1241975606 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1241989233 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS1241995212 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Hypoprebetalipoproteinemia
RS1242016118 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1242023655 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1242027664 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS1242028775 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1242031768 PCLO Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 3, Pontocerebellar hypoplasia type 3
RS1242036108 DEPDC5 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS1242070276 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1242078669 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6
RS1242089464 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1242089483 TET2 Health Risk Likely pathogenic Myelodysplastic syndrome, Immunodeficiency 75
RS1242103284 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS1242125183 IFT43 Health Risk Pathogenic —
RS1242134764 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1242136178 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1242143931 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1242147886 NRXN1 Health Risk Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1242150130 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1242152481 FLAD1 Health Risk Pathogenic —
RS1242159511 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Charcot-Marie-Tooth disease type 4K
RS1242180535 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1242228226 CDH3 Health Risk Likely pathogenic —
RS1242235025 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1242260236 CTLA4 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1242267009 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1242271427 SUZ12 Health Risk Pathogenic —
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