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
RS781079171 MED13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dextro-looped transposition of the great arteries
RS781079248 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS781079975 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS781080005 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS781080456 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, See cases
RS781080459 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS781081194 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS781081298 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781081744 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS781081834 KCNQ4 Health Risk Conflicting classifications of pathogenicity —
RS781082506 ARID1B Health Risk Conflicting classifications of pathogenicity ARID1B-related disorder, ARID1B-related disorder
RS781082812 ASNS Health Risk Likely pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS781083252 EXT2 Health Risk Pathogenic Exostoses, multiple
RS781084356 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS781084693 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS781085072 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS781086486 RPGR Health Risk Conflicting classifications of pathogenicity X-linked cone-rod dystrophy 1, Primary ciliary dyskinesia
RS781087045 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS781088002 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS781088450 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS781088670 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS781088854 POMK Health Risk Pathogenic Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS781088855 TYRP1 Health Risk Pathogenic —
RS781089233 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781089454 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS781089843 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781090024 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS781090386 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS781090555 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS781092208 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS781093215 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS781093275 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS781094608 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS781095837 MACF1 Health Risk Conflicting classifications of pathogenicity —
RS781096099 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS781096854 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS781097055 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS781097746 CRPPA Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS781098256 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS781098379 ABCG5 Health Risk Pathogenic Hypercholesterolemia, Abnormal circulating lipid concentration
RS781099275 NDUFA6 Health Risk Pathogenic Mitochondrial disease, Mitochondrial complex I deficiency
RS781099697 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781099726 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS781100862 ADGRL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS781101191 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS781101544 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS781101708 BSND Health Risk Conflicting classifications of pathogenicity Bartter syndrome, Inborn genetic diseases
RS781104838 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS781104894 SPTB Health Risk Pathogenic —
RS781107536 TBXAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781107857 VPS33B Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS781108283 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781110591 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS781112960 RDH5 Health Risk Pathogenic Retinal dystrophy, Pigmentary retinal dystrophy
RS781115721 DPM1 Health Risk Pathogenic Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS781115798 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS781116632 KCNV2 Health Risk Conflicting classifications of pathogenicity KCNV2-related disorder, KCNV2-related disorder
RS781116833 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781118074 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS781118824 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS781118987 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS781119139 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS781119815 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS781120931 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS781121267 PLK4 Health Risk Pathogenic —
RS781121273 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS781121675 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS781123663 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS781124226 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS781124240 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS781124530 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS781124934 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS781125997 DEPDC5 Health Risk Likely pathogenic SUDDEN INFANT DEATH SYNDROME, Familial focal epilepsy with variable foci
RS781126037 ABCA13 Health Risk Pathogenic —
RS781126315 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS781126484 DUOXA2 Health Risk Pathogenic Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
RS781126747 DRP2 Health Risk Pathogenic —
RS781127120 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS781127723 MMP21 Health Risk Pathogenic Heterotaxy, visceral
RS781127839 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS781127889 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS781128315 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781128731 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS781130745 KIT Health Risk Conflicting classifications of pathogenicity Piebaldism, Gastrointestinal stromal tumor
RS781130788 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS781131183 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS781131678 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS781131703 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS781131982 MYO1A Health Risk Conflicting classifications of pathogenicity —
RS781132082 KPTN Health Risk Conflicting classifications of pathogenicity Macrocephaly-developmental delay syndrome, Inborn genetic diseases
RS781132110 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS781132225 SLC25A22 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS781132265 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS7811324 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS781132665 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS781133275 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS781134478 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS781134558 CEP104 Health Risk Likely pathogenic Joubert syndrome and related disorders, Sarcoma
RS781134719 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS781135139 TRIOBP Health Risk Conflicting classifications of pathogenicity —
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