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
RS760182094 ECHS1 Health Risk Conflicting classifications of pathogenicity —
RS760182781 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS760183425 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS760183633 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS760185109 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS760186083 ZNF469 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS760186095 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760186219 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS760186575 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS760186738 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS760186813 XDH Health Risk Pathogenic Xanthinuria type II, Hereditary xanthinuria type 1
RS760186894 KDM5B Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Intellectual disability
RS760187120 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760187215 MYH7 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy
RS760187500 TIAM1 Health Risk Pathogenic Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures
RS760187622 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS760188581 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS760189378 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS760189807 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS760190293 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS760190301 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS760191638 ARPC1B Health Risk Pathogenic Combined immunodeficiency, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
RS760191922 PUS1 Health Risk Conflicting classifications of pathogenicity —
RS760192112 HSD3B7 Health Risk Conflicting classifications of pathogenicity HSD3B7-related disorder, Congenital bile acid synthesis defect 1
RS760192298 SPO11 Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS760194274 ENO3 Health Risk Likely pathogenic —
RS760194495 SLC27A4 Health Risk Conflicting classifications of pathogenicity Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS760194824 SERPINB6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 91, Autosomal recessive nonsyndromic hearing loss 91
RS760196248 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS760196276 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS760196687 CLCC1 Health Risk Conflicting classifications of pathogenicity —
RS760196754 ACVR2B Health Risk Conflicting classifications of pathogenicity —
RS760196991 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS760199250 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS760199993 KDM6B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS760200697 NEB Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy 2
RS760201640 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS760202413 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS760203204 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS760203474 APOB Health Risk Pathogenic Cardiovascular phenotype, Hypercholesterolemia
RS760203599 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome 3b
RS760203945 SLC4A11 Health Risk Likely pathogenic —
RS760204061 F5 Health Risk Conflicting classifications of pathogenicity Congenital factor V deficiency, Inborn genetic diseases
RS760205035 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Inborn genetic diseases
RS760205277 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS760205499 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS760206146 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760206158 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS760206323 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS760206426 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS760206821 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS760207157 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS760207624 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS760208449 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS760208786 DDHD1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia
RS760209358 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS760212654 FRAS1 Health Risk Pathogenic —
RS760214177 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS760214276 TTC21B Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 4, Jeune thoracic dystrophy
RS760214620 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS760214724 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS760214732 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS760215220 SKIC3 Health Risk Pathogenic —
RS760215716 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS760215987 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS760216630 CYP21A2 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS760216957 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, See cases
RS760217241 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS760217267 UBR1 Health Risk Likely pathogenic —
RS760217787 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS760218658 SPTB Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS760219197 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS760219584 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS760220858 HSPA1L Health Risk Conflicting classifications of pathogenicity —
RS760222236 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS760223250 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS760224932 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS760225405 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS760225886 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS760226129 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram-like syndrome
RS760226714 DYNC2I2 Health Risk Pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS760227243 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS760228082 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS760228510 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS760228651 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS760229466 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS760229620 PLD1 Health Risk Pathogenic Cardiac valvular defect, developmental
RS760229878 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS760230147 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS760230300 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS760230943 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS760232640 ERCC5 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 3, Cerebrooculofacioskeletal syndrome 3
RS760232764 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS760233049 CYP27B1 Health Risk Pathogenic —
RS760234757 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, PSTPIP1-related disorder
RS760234838 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS760234906 SEPTIN9 Health Risk Conflicting classifications of pathogenicity —
RS760234960 KATNIP Health Risk Likely pathogenic —
RS760235113 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS760235677 RAD51C Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
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