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
RS753993972 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS753994013 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder
RS753994107 CERKL Health Risk Pathogenic/Likely pathogenic Retinal pigment epithelial atrophy, Cone dystrophy
RS753994372 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Sneddon syndrome
RS753994750 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS753997203 LZTR1 Health Risk Pathogenic —
RS753997322 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS753997885 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS753998395 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 3
RS75399846 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS753998777 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS753999114 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS753999434 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS753999443 ALDH3A2 Health Risk Pathogenic —
RS753999588 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS753999676 IDH3A Health Risk Pathogenic —
RS754000026 RAI1 Health Risk Pathogenic —
RS754001064 POLE Health Risk Conflicting classifications of pathogenicity —
RS754001934 C6 Health Risk Pathogenic —
RS754002357 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS754002399 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS754004231 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS754005964 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS754008420 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS754008719 CAMTA1 Health Risk Pathogenic/Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS754008850 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS754010322 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754011064 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS754011320 OR11H2 Health Risk Conflicting classifications of pathogenicity —
RS754012367 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 43
RS754014157 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS754014741 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS754014970 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS754015058 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS754015492 MOCS2 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Combined molybdoflavoprotein enzyme deficiency
RS754015864 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS754016774 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS754016783 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS754016839 RECQL Health Risk Conflicting classifications of pathogenicity —
RS754017629 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia, Autosomal dominant distal renal tubular acidosis
RS754017886 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS754018138 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS754019195 SPINK5 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS754019727 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS754022333 TXN2 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 29, Combined oxidative phosphorylation deficiency 29
RS754023358 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS754023795 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS754024907 TNFRSF9 Health Risk Pathogenic Lymphoma, Squamous cell carcinoma of the head and neck
RS754025384 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS754025885 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS754025938 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS754026612 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754030624 ATR Health Risk Pathogenic —
RS754031943 IMPDH1 Health Risk Pathogenic —
RS754031991 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754032480 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy 6B
RS754032570 UBE3B Health Risk Likely pathogenic —
RS754033201 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS754033243 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS754033733 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS754033834 LIPA Health Risk Pathogenic/Likely pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS754034094 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS754034347 COL4A1 Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS754035007 IGF1R Health Risk Conflicting classifications of pathogenicity —
RS754036418 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS754037065 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS754037135 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 2
RS754037480 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754037858 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS754038742 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754038777 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS754039292 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS754039882 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS754040283 PDE8B Health Risk Conflicting classifications of pathogenicity —
RS754040394 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS754040534 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS754040589 CEACAM16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754041709 TEX15 Health Risk Likely pathogenic Spermatogenic failure 25, Spermatogenic failure 25
RS754043007 ASNS Health Risk Conflicting classifications of pathogenicity Neurodevelopmental abnormality, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS754043680 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS754043732 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754044289 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS754046062 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS754046647 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early-infantile DEE
RS754047254 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS754048173 TTLL5 Health Risk Pathogenic —
RS754048358 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS754048525 TCTN2 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS754049390 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS754049402 LBR Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Regressive spondylometaphyseal dysplasia
RS754050324 MYH3 Health Risk Conflicting classifications of pathogenicity Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS754050501 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS754051144 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS754052089 CEP85L Health Risk Pathogenic/Likely pathogenic Lissencephaly 10, Posterior Predominant Lissencephaly
RS754054340 SLC34A3 Health Risk Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS754054728 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754056304 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS754060706 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS754062320 WEE2 Health Risk Pathogenic Oocyte maturation defect 5, Oocyte maturation defect 5
RS75406397 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
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