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
RS747004063 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS747004925 MYH7 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy
RS747005979 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS747006175 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, F5-related disorder
RS747006885 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS747008412 FGD1 Health Risk Conflicting classifications of pathogenicity —
RS747009288 OTUD6B Health Risk Pathogenic —
RS747009766 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Inborn genetic diseases
RS747009924 LPL Health Risk Pathogenic —
RS747009931 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS747010460 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS747010865 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism
RS747011377 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS747011587 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS747011633 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, Vesicoureteral reflux 2
RS747013127 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS747013505 LTBP4 Health Risk Pathogenic/Likely pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS747014545 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747014712 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS747015041 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS747017639 FLVCR1 Health Risk Pathogenic —
RS747018176 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS747018859 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS747019279 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS747019774 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS747019990 PRNP Health Risk Conflicting classifications of pathogenicity Inherited prion disease, Huntington disease-like 1
RS747021489 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS747022065 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS747022200 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Ovarian cancer
RS747022808 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS747024539 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS747024874 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS747024881 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31A
RS747025576 LEMD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747025617 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS747026228 HAX1 Health Risk Pathogenic —
RS747026964 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS747027298 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS747028124 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS747028553 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Inborn genetic diseases
RS747028969 EZH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Weaver syndrome
RS747029402 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS747029963 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS747031778 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS747032303 TYR Health Risk Conflicting classifications of pathogenicity —
RS747034126 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS747035776 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS747035900 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS747036550 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS747036748 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS747037863 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS747040221 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS747040656 FLG Health Risk Pathogenic —
RS747040897 FOXE3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital primary aphakia
RS747040987 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS747041200 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS747041428 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS747043550 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS747043918 BEST1 Health Risk Pathogenic Retinal dystrophy, Autosomal recessive bestrophinopathy
RS747045738 MAN1B1 Health Risk Likely pathogenic —
RS747045754 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS747046197 BRCA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS747046381 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS747046727 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS747046961 DGUOK Health Risk Pathogenic —
RS747046963 ABCA4 Health Risk Pathogenic —
RS747048051 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS747048627 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS747049346 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747049347 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS747049729 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS747050222 ALPK1 Health Risk Conflicting classifications of pathogenicity —
RS747050726 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747052534 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, NPHP3-related Meckel-like syndrome
RS747053008 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS747053501 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS747053710 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS747053796 CEP152 Health Risk Pathogenic —
RS747054153 TMPRSS3 Health Risk Pathogenic —
RS747054427 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS747054712 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Camptomelic dysplasia
RS747055420 LPL Health Risk Conflicting classifications of pathogenicity —
RS747055774 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS747056004 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747056590 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS747056886 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS747057367 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Gastric cancer
RS747058390 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747058622 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS747058634 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS747061582 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS747062491 UGT1A1 Health Risk Conflicting classifications of pathogenicity —
RS747062636 CHRNG Health Risk Conflicting classifications of pathogenicity —
RS747063294 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS747064765 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747066288 MAFB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747066370 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS747067203 CHRNG Health Risk Pathogenic Autosomal recessive multiple pterygium syndrome, Inborn genetic diseases
RS747067327 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS747067894 DDX23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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