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
RS1479034426 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS147903664 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS147903846 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS147903984 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS147904018 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS147904037 SLC25A19 Health Risk Conflicting classifications of pathogenicity SLC25A19-related disorder, SLC25A19-related disorder
RS147904100 MVK Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Porokeratosis 3
RS147904376 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147904867 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS147904988 C1QC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147905321 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS147905567 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS1479056828 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS147906282 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Inborn genetic diseases
RS147909031 DSP Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Cardiomyopathy
RS1479099522 SCLT1 Health Risk Pathogenic —
RS147910468 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS1479104927 TAB2 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, multiple types
RS147911102 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica
RS147911658 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147911699 POLD1 Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Colorectal cancer
RS147912187 CAT Health Risk Conflicting classifications of pathogenicity Acatalasia, CAT-related disorder
RS147912364 TOP2B Health Risk Conflicting classifications of pathogenicity —
RS147912521 GJB4 Health Risk Conflicting classifications of pathogenicity —
RS147913000 SYNGAP1 Health Risk Pathogenic —
RS1479142047 MAPK8IP3 Health Risk Likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS147914333 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Inborn genetic diseases
RS147914553 CDT1 Health Risk Pathogenic Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
RS1479149167 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS147914967 TTC7A Health Risk Pathogenic/Likely pathogenic Multiple gastrointestinal atresias, Gastrointestinal defect and immunodeficiency syndrome
RS147915571 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS147915980 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS147916609 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS147917344 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS147917925 TUBGCP2 Health Risk Conflicting classifications of pathogenicity —
RS147918962 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS147919436 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS147919567 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS1479197164 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147920229 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS147920726 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS147920893 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS147921001 DNAJB13 Health Risk Conflicting classifications of pathogenicity Cough, Cough
RS147921439 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, MTTP-related disorder
RS1479230229 B3GALNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS147923550 MAST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147923905 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1479239564 EPG5 Health Risk Likely pathogenic Syndromic retinitis pigmentosa, Syndromic retinitis pigmentosa
RS1479241411 F9 Health Risk Pathogenic Abnormality of coagulation, Thrombophilia
RS147924368 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS147924974 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS147925283 TIMM44 Health Risk Conflicting classifications of pathogenicity —
RS147925927 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1479265535 ATP8A2 Health Risk Pathogenic —
RS1479265777 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS147926991 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS1479271521 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS147927477 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Hearing impairment
RS147927593 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS1479278183 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS147928844 MAN2C1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation 2, Congenital disorder of deglycosylation 2
RS147928948 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS147929290 SYNJ1 Health Risk Conflicting classifications of pathogenicity Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS1479296707 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1479306494 ADGRV1 Health Risk Pathogenic —
RS147930789 RIPK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RIPK4-related disorder
RS147931490 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS147931502 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Inborn genetic diseases
RS147931650 AIP Health Risk Conflicting classifications of pathogenicity Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS147932068 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS147932486 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS147932653 MRPS22 Health Risk Likely pathogenic Hypotonia with lactic acidemia and hyperammonemia, MRPS22-related disorder
RS1479328926 RAG2 Health Risk Likely pathogenic Recombinase activating gene 2 deficiency, Inborn error of immunity
RS147932991 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1479333618 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147933501 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS147933585 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS147933593 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1479339581 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS147934193 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS147935593 DCPS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Al-Raqad syndrome
RS1479360028 RAD51C Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS147936148 SCN4A Health Risk Conflicting classifications of pathogenicity 6 conditions, Congenital myasthenic syndrome 16
RS147936696 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS147936946 COL1A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Osteogenesis imperfecta type I
RS1479370067 LAMA3 Health Risk Pathogenic —
RS1479370932 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS147937174 CRYBB3 Health Risk Conflicting classifications of pathogenicity Cataract 22 multiple types, Cataract 22 multiple types
RS1479377696 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1479385947 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS147938650 NPRL2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS147938980 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1479391155 PRPF8 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS147939483 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS147939838 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS147940248 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Intellectual disability
RS147940796 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1479409508 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS147941728 ATPAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
RS147941846 CASQ2 Health Risk Likely pathogenic —
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