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
RS1224987754 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1224997537 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1225032182 BEST1 Health Risk Pathogenic Macular dystrophy, Vitelliform macular dystrophy 2
RS1225034187 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1225042876 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1225083595 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1225091358 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1225100895 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1225111857 FUT8 Health Risk Likely pathogenic FUT8-related disorder, FUT8-related disorder
RS1225112062 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1225132374 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1225145669 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1225178489 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1225192406 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1225195349 ESCO2 Health Risk Likely pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS12252 IFITM3 Health Risk risk factor Influenza, severe
RS1225209196 LARS2 Health Risk Pathogenic —
RS1225223445 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1225225979 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Ovarian cancer
RS1225230645 CRB2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 9, Ventriculomegaly-cystic kidney disease
RS1225243005 C7 Health Risk Pathogenic —
RS1225289450 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1225299095 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, BBS2-related ciliopathy
RS1225303075 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS1225304963 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS1225307143 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Inborn genetic diseases
RS1225310096 RUSC2 Health Risk Pathogenic —
RS1225324996 DNAH9 Health Risk Pathogenic/Likely pathogenic Ciliary dyskinesia, primary
RS1225330805 FA2H Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1225338975 FRAS1 Health Risk Pathogenic —
RS1225343345 ALMS1 Health Risk Pathogenic Alstrom syndrome, Retinal dystrophy
RS1225373762 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1225374015 TJP2 Health Risk Pathogenic/Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1225376562 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1225380850 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1225388174 TCF12 Health Risk Pathogenic/Likely pathogenic —
RS1225389709 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia 15, Primary ciliary dyskinesia 15
RS1225418115 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1225434780 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1225437533 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1225462507 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1225471006 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS1225476931 IMPDH1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1225486613 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1225487694 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1225510787 ADAMTS17 Health Risk Pathogenic —
RS1225518851 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS1225532037 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS12255372 TCF7L2 Health Risk risk factor Diabetes mellitus type 2, susceptibility to
RS1225539653 SPTB Health Risk Conflicting classifications of pathogenicity —
RS1225564406 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1225577943 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1225601391 SLC26A2 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Osteochondrodysplasia
RS1225603414 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS1225623204 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1225631813 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1225633423 TRIOBP Health Risk Pathogenic —
RS1225635203 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1225638867 DMD Health Risk Pathogenic Abnormality of the musculature, Abnormality of the musculature
RS1225648834 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS1225652188 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1225658091 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1225660627 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1225667509 UBR7 Health Risk Pathogenic Li-Campeau syndrome, Li-Campeau syndrome
RS1225673675 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1225676118 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1225685090 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS1225687118 SCN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Seizures
RS1225700612 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1225701102 POC1B Health Risk Pathogenic —
RS1225701554 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1225703225 PIGB Health Risk Likely pathogenic —
RS1225726040 OTOG Health Risk Likely pathogenic OTOG-related disorder, OTOG-related disorder
RS1225726214 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1225734988 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1225788826 EYS Health Risk Pathogenic —
RS1225789185 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1225797407 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1225841418 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS1225844494 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1225845438 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1225847249 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1225852818 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1225858240 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1225874870 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS1225878757 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1225892123 INS Health Risk Likely pathogenic INS-related disorder, INS-related disorder
RS1225913995 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1225914438 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1225924246 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1225927323 APTX Health Risk Pathogenic/Likely pathogenic Ataxia, early-onset
RS1225927424 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1225932577 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS1225945960 MCPH1 Health Risk Pathogenic/Likely pathogenic Microcephaly 1, primary
RS1225948299 TRMU Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS1225963332 SERPINB6 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 91, Autosomal recessive nonsyndromic hearing loss 91
RS1225964479 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1225975689 ALPK3 Health Risk Pathogenic —
RS1225988242 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1226013247 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
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