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
RS138491809 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS1384922524 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS138492835 NSDHL Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS138492927 HK1 Health Risk Conflicting classifications of pathogenicity —
RS1384933966 TMPRSS6 Health Risk Likely pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS138493551 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS138493915 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS138495222 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS138495345 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS138495618 CPLANE1 Health Risk Conflicting classifications of pathogenicity —
RS138495705 FLVCR2 Health Risk Pathogenic Fowler syndrome, Fowler syndrome
RS138496114 NES Health Risk Conflicting classifications of pathogenicity —
RS1384962507 P3H2 Health Risk Pathogenic —
RS138497004 GUCY2C Health Risk Conflicting classifications of pathogenicity —
RS138497378 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS138497409 PHEX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1384974578 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS1384976053 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS138497710 GLIS3 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism
RS138497939 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS138498207 KCNH2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS138498376 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS138498390 PDYN Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS138498426 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease type II
RS138498551 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1384985862 NPHS1 Health Risk Pathogenic —
RS138498898 COL2A1 Health Risk Conflicting classifications of pathogenicity Avascular necrosis of femoral head, primary
RS138499176 FBXO11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138499457 PIEZO2 Health Risk Conflicting classifications of pathogenicity —
RS138500508 FASTKD2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 44, Inborn genetic diseases
RS138500615 VLDLR Health Risk Conflicting classifications of pathogenicity VLDLR-related disorder, VLDLR-related disorder
RS1385011604 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS138501547 CTNNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138501598 XPNPEP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis-like nephropathy 1, Inborn genetic diseases
RS138502867 IMPDH1 Health Risk Conflicting classifications of pathogenicity IMPDH1-related disorder, IMPDH1-related disorder
RS138503809 CDC73 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism 1, Hyperparathyroidism 2 with jaw tumors
RS138503916 COL4A1 Health Risk Conflicting classifications of pathogenicity COL4A1-related disorder, Inborn genetic diseases
RS138503921 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS138504099 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS138504221 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS138504338 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Inborn genetic diseases
RS138504371 CBLIF Health Risk Conflicting classifications of pathogenicity Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS1385050944 COL4A2 Health Risk Pathogenic —
RS138505566 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138505797 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Polycystic liver disease 1
RS1385058993 MEIS2 Health Risk Likely pathogenic Cardiac malformation, cleft lip/palate
RS138506461 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS138506849 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS138507620 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1385076821 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS138507814 GHSR Health Risk Conflicting classifications of pathogenicity Short stature due to growth hormone secretagogue receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency
RS138508233 ODAD2 Health Risk Pathogenic —
RS138508512 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS138509345 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS138509553 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, TMEM237-related disorder
RS138509814 C5 Health Risk Conflicting classifications of pathogenicity Complement component 5 deficiency, Eculizumab
RS138509817 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1385101139 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS138510486 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS1385106410 COL4A3 Health Risk Likely pathogenic Alport syndrome, Autosomal dominant Alport syndrome
RS138510668 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS1385107002 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS138510884 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS138511291 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS138511448 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS138511699 FGG Health Risk Conflicting classifications of pathogenicity Abnormal bleeding, Congenital afibrinogenemia
RS1385119665 ABCA4 Health Risk Pathogenic Retinal dystrophy, ABCA4-related disorder
RS138511988 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS1385129513 SCLT1 Health Risk Likely pathogenic —
RS1385130088 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1385132304 KCNV2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1385139268 TPO Health Risk Likely pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS138514054 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1385141619 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1385142974 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Monogenic diabetes
RS138514430 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, NLRP12-related disorder
RS1385146569 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS138515091 BSCL2 Health Risk Conflicting classifications of pathogenicity Severe neurodegenerative syndrome with lipodystrophy, Charcot-Marie-Tooth disease type 2
RS138515760 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Inborn genetic diseases
RS138517528 DNHD1 Health Risk Conflicting classifications of pathogenicity DNHD1-related disorder, DNHD1-related disorder
RS138517537 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS138518139 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS138518242 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS138518245 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS138519099 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS138519217 ZNF408 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138520154 KCNJ16 Health Risk Pathogenic Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
RS138520224 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1385213836 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS138521550 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS138521721 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS138521935 ATP2B4 Health Risk Conflicting classifications of pathogenicity —
RS138522639 SEMA3C Health Risk Conflicting classifications of pathogenicity SEMA3C-related disorder, SEMA3C-related disorder
RS1385227341 CYP26C1 Health Risk Pathogenic —
RS138523651 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS138524783 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS1385251852 HNF4A Health Risk Likely pathogenic/Likely risk allele Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
RS138525539 ADGRA3 Health Risk Conflicting classifications of pathogenicity ADGRA3-related disorder, ADGRA3-related disorder
RS138526426 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS138526888 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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