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
RS140728855 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS140729669 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS140729879 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140730243 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140730556 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, FYCO1-related disorder
RS140730971 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS1407313220 MYO7A Health Risk Pathogenic Usher syndrome type 1, Sensorineural hearing loss disorder
RS140731896 TPO Health Risk Pathogenic/Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1407319475 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1407338094 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS140733878 KIF1B Health Risk Conflicting classifications of pathogenicity KIF1B-related disorder, KIF1B-related disorder
RS140733978 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1407346059 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS140734894 GOLM2 Health Risk Conflicting classifications of pathogenicity —
RS140734968 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HUWE1-related disorder
RS140735182 CCDC22 Health Risk Conflicting classifications of pathogenicity —
RS140735525 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS140735590 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS140736262 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS1407363425 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS140736502 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, PCDH15-related disorder
RS140736646 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1407377211 ADCY10 Health Risk Likely pathogenic Familial idiopathic hypercalciuria, Familial idiopathic hypercalciuria
RS140740776 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS140741466 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, ANK3-related disorder
RS1407415699 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS140742016 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS140742656 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS140743000 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS140743001 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS140743238 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1407446171 ITPA Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 35
RS140744695 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS140745100 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS140745167 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1407456778 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1407463042 MSH3 Health Risk Conflicting classifications of pathogenicity —
RS140746527 ADCY1 Health Risk Conflicting classifications of pathogenicity —
RS140747102 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS140747686 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS1407480461 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS140748251 CEP135 Health Risk Conflicting classifications of pathogenicity Microcephaly 8, primary
RS1407484817 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1407486337 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS140748929 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS140749796 GNA11 Health Risk Pathogenic Autosomal dominant hypocalcemia 2, Autosomal dominant hypocalcemia 2
RS1407498555 CTNS Health Risk Pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS140750904 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS1407509439 KRAS Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS140752229 AHNAK2 Health Risk Conflicting classifications of pathogenicity Dysmetria, Dysmetria
RS1407524067 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS140752487 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS140753374 SLC30A7 Health Risk Conflicting classifications of pathogenicity —
RS140753501 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1407535458 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS140753861 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS140754153 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS140754514 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS140755418 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS140756498 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Wilms tumor 1
RS1407566775 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS140756827 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Hereditary spastic paraplegia
RS140757594 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS140757802 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS1407579456 GPATCH11 Health Risk Pathogenic Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
RS140758033 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS140758113 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS140760056 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1407602065 PCARE Health Risk Likely pathogenic —
RS1407605188 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS140760845 AHR Health Risk Pathogenic —
RS140760859 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1407611048 MICOS13 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS140761981 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS140764671 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS1407649319 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS140764964 PCDH11X Health Risk Conflicting classifications of pathogenicity —
RS1407652513 KCNMA1 Health Risk Likely pathogenic —
RS140766884 VCL Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS140767058 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1407675367 HTRA2 Health Risk Pathogenic 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
RS140768346 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS1407685117 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS140769107 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS140769111 SLCO2A1 Health Risk Conflicting classifications of pathogenicity Hypertrophic osteoarthropathy, primary
RS140769712 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS140769823 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1407700643 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS140770089 APOA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS140770274 NRCAM Health Risk Pathogenic NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
RS140770731 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS140770832 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1407708384 GLE1 Health Risk Pathogenic —
RS140771069 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, CPT2-related disorder
RS140771210 REN Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis of genetic origin, Familial juvenile hyperuricemic nephropathy type 2
RS1407713091 SLC26A5 Health Risk Pathogenic —
RS140772300 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS140772793 SOX11 Health Risk Conflicting classifications of pathogenicity SOX11-related disorder, SOX11-related disorder
RS140772904 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS140773238 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, Obesity
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