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
RS761621368 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS761621516 GAMT Health Risk Pathogenic Gaucher disease type I, Gaucher disease type II
RS761621587 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS761622153 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS761622304 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS761622550 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS761622978 AIPL1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 4
RS761623564 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS761623610 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS761625006 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS761628767 NR2E3 Health Risk Likely pathogenic Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS761629258 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS761629787 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS761630483 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS761630560 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS761630796 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761631513 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761631713 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS761631783 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS761631813 SELENON Health Risk Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS761632029 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS761632870 ARX Health Risk Conflicting classifications of pathogenicity X-linked lissencephaly with abnormal genitalia, Partington syndrome
RS761633407 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS76163360 SMN1 Health Risk Pathogenic Werdnig-Hoffmann disease, Werdnig-Hoffmann disease
RS761634030 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS761634052 NBAS Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS761634625 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS761635539 TUBB4A Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS761635725 TNXB Health Risk Likely pathogenic Vesicoureteral reflux 8, Vesicoureteral reflux 8
RS761635767 CIZ1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS761636251 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS761636459 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 48
RS761637319 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS761637559 FANCM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761637940 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS761638957 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS761639530 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS761640153 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS761640192 FCHO1 Health Risk Conflicting classifications of pathogenicity —
RS761643896 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS761645282 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS761645724 OCRL Health Risk Conflicting classifications of pathogenicity Dent disease type 2, Lowe syndrome
RS761645932 PHKB Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXb, Glycogen phosphorylase kinase deficiency
RS761646754 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS761647447 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS761648454 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS761649878 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS761650208 CAT Health Risk Pathogenic Acatalasemia, japanese type
RS761650400 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS761650522 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS761651126 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS761651233 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS761651320 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS761651331 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS761652195 SLC10A2 Health Risk Conflicting classifications of pathogenicity SLC10A2-related disorder, SLC10A2-related disorder
RS761653387 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS761653490 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS761655321 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS761656607 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761656636 EFEMP2 Health Risk Pathogenic/Likely pathogenic Cutis laxa, autosomal recessive
RS761657434 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS761658541 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS761660130 TTN Health Risk Conflicting classifications of pathogenicity —
RS761661253 CEP78 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy and hearing loss 1, Retinal dystrophy
RS761661864 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS761661933 REST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761662406 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS761662654 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS761663690 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS761663786 SCNN1A Health Risk Conflicting classifications of pathogenicity —
RS761663976 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS761664802 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS761664847 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS761665399 SLX4 Health Risk Likely pathogenic —
RS761665644 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS761665772 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS761666021 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS761666105 POLE Health Risk Conflicting classifications of pathogenicity —
RS761666344 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS761667882 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761668228 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS761669036 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS761669332 IFNAR2 Health Risk Pathogenic —
RS761669740 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS761670478 AGT Health Risk Conflicting classifications of pathogenicity Anhydramnios, Renal tubular dysgenesis of genetic origin
RS761670755 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761672073 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS761673241 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761673463 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS761674579 ZMYND10 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS761674987 SMARCC1 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Inborn genetic diseases
RS761676028 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS761677945 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS761681684 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS761683856 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS761684028 SGPL1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome 14, Nephrotic syndrome 14
RS761684626 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS761684970 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS761685529 LZTR1 Health Risk Pathogenic Noonan syndrome 2, Cardiovascular phenotype
RS761686437 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
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