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
RS1277939762 CACNA1F Health Risk Likely pathogenic —
RS1277942930 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1277958075 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS1277965530 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1277966688 SLC17A5 Health Risk Likely pathogenic Sialic acid storage disease, severe infantile type
RS1277968524 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS1277990552 DNAJC12 Health Risk Pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS1277996676 OTOGL Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS1278005040 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1278019392 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1278021176 COL7A1 Health Risk Pathogenic —
RS1278022127 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1278026061 USH1C Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS1278030644 RET Health Risk Pathogenic RET-related disorder, RET-related disorder
RS1278038759 IMPG1 Health Risk Likely pathogenic —
RS1278044377 ABCA3 Health Risk Pathogenic —
RS1278045166 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1278049478 NBAS Health Risk Pathogenic —
RS1278053918 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS12780580 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS1278070199 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1278076805 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1278078294 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1278089386 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Senior-Loken syndrome 4
RS1278095773 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1278117182 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS1278119822 MFSD2A Health Risk Pathogenic Microcephaly 15, primary
RS1278121916 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1278137915 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS1278139327 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1278142628 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1278147369 CREBBP Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1278163109 HBG2 Health Risk Pathogenic Cyanosis, transient neonatal
RS1278213544 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1278216949 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1278226911 CERKL Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 26
RS1278227329 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1278228854 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1278232284 INS Health Risk Likely pathogenic Neonatal diabetes mellitus, Neonatal diabetes mellitus
RS1278235097 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1278244243 TJP2 Health Risk Conflicting classifications of pathogenicity Cholestasis, progressive familial intrahepatic
RS1278246029 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1278248464 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1278265933 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1278279828 NEU1 Health Risk Pathogenic —
RS1278300199 MN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1278305591 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1278313953 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1278340100 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1278342620 METTL23 Health Risk Pathogenic Intellectual disability, autosomal recessive 44
RS1278362025 SLC25A46 Health Risk Likely pathogenic Neuropathy, hereditary motor and sensory
RS1278381406 CPS1 Health Risk Pathogenic Pulmonary hypertension, neonatal
RS1278390159 ACE Health Risk Likely pathogenic ACE-related disorder, ACE-related disorder
RS1278404579 PDSS1 Health Risk Pathogenic Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS1278413331 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS1278460471 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1278463714 CLCNKB Health Risk Pathogenic —
RS1278468610 BTG4 Health Risk Pathogenic Oocyte maturation defect 8, Oocyte maturation defect 8
RS1278475785 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1278487078 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1278493215 BCL11B Health Risk Conflicting classifications of pathogenicity —
RS1278501001 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1278503244 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1278511367 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS1278514080 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1278522566 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS1278540627 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1278585545 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1278589861 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS1278597997 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1278603247 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1278606677 CDH23 Health Risk Likely pathogenic —
RS1278614167 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1278614363 CARMIL2 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS1278648561 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1278657493 MYO3A Health Risk Likely pathogenic —
RS1278679056 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1278689263 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS12786957 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1278698690 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1278701043 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1278702432 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1278715599 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1278743247 LAMB1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1278743459 ABCA4 Health Risk Pathogenic —
RS1278744613 EIF2B1 Health Risk Pathogenic —
RS1278777268 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1278779161 ZBTB11 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 69
RS1278785558 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1278804341 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1278804520 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS1278815943 TSPAN12 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1278821174 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1278823424 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1278834014 SDHB Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Gastrointestinal stromal tumor
RS1278834481 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1278836130 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1278843875 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1278858560 MSH2 Health Risk Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1278864604 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
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