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
RS1064796541 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1064796542 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Cystic renal disease
RS1064796543 MED13L Health Risk Pathogenic —
RS1064796545 UBE3A Health Risk Pathogenic —
RS1064796547 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1064796549 COL4A4 Health Risk Likely pathogenic —
RS1064796552 DPYD Health Risk Likely pathogenic —
RS1064796556 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1064796557 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1064796564 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS1064796565 KIF1A Health Risk Pathogenic Neuropathy, hereditary sensory
RS1064796568 NSD1 Health Risk Pathogenic/Likely pathogenic —
RS1064796569 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064796572 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064796574 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064796579 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1064796581 FLNA Health Risk Pathogenic —
RS1064796583 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1064796584 KCNH2 Health Risk Likely pathogenic —
RS1064796593 COL1A2 Health Risk Pathogenic —
RS1064796601 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1064796606 TCOF1 Health Risk Pathogenic —
RS1064796608 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1064796609 NAXE Health Risk Pathogenic —
RS1064796610 LRP2 Health Risk Likely pathogenic —
RS1064796611 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1064796614 IQSEC2 Health Risk Pathogenic —
RS1064796615 CHD7 Health Risk Likely pathogenic —
RS1064796617 EZH2 Health Risk Likely pathogenic —
RS1064796618 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1064796620 SCN2A Health Risk Likely pathogenic —
RS1064796622 GATAD2B Health Risk Pathogenic —
RS1064796630 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1064796631 NF1 Health Risk Pathogenic —
RS1064796632 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1064796633 NF1 Health Risk Pathogenic —
RS1064796635 LAMP2 Health Risk Likely pathogenic Melanoma, Nonpapillary renal cell carcinoma
RS1064796636 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1064796640 CACNA1A Health Risk Likely pathogenic —
RS1064796644 KMT2A Health Risk Likely pathogenic —
RS1064796646 CTNNB1 Health Risk Pathogenic —
RS1064796648 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS1064796649 SATB2 Health Risk Likely pathogenic —
RS1064796656 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1064796658 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1064796660 COL2A1 Health Risk Pathogenic Type 2 collagenopathy, Type 2 collagenopathy
RS1064796665 MNX1 Health Risk Likely pathogenic —
RS1064796666 CHD8 Health Risk Likely pathogenic —
RS1064796667 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064796669 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1064796670 COL12A1 Health Risk Pathogenic COL12A1-related disorder, COL12A1-related disorder
RS1064796672 KMT2A Health Risk Pathogenic —
RS1064796673 EFEMP2 Health Risk Likely pathogenic —
RS1064796675 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS1064796677 LMNA Health Risk Pathogenic —
RS1064796681 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1064796683 B4GALT7 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS1064796684 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1064796690 NSD1 Health Risk Likely pathogenic —
RS1064796691 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1064796693 KIF1C Health Risk Likely pathogenic Spastic ataxia 2, Spastic ataxia 2
RS1064796698 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1064796700 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1064796702 JAG1 Health Risk Pathogenic —
RS1064796703 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1064796706 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1064796708 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1064796709 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1064796710 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS1064796711 KMT2A Health Risk Pathogenic —
RS1064796712 SMARCE1 Health Risk Likely pathogenic —
RS1064796713 DYRK1A Health Risk Pathogenic —
RS1064796714 SCN1A Health Risk Pathogenic —
RS1064796715 ERF Health Risk Pathogenic/Likely pathogenic TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS1064796717 NARS2 Health Risk Likely pathogenic —
RS1064796718 SOX9 Health Risk Likely pathogenic —
RS1064796720 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS1064796721 EBP Health Risk Pathogenic —
RS1064796722 TP53 Health Risk Likely pathogenic Ovarian neoplasm, Li-Fraumeni syndrome 1
RS1064796723 MEIS2 Health Risk Likely pathogenic —
RS1064796724 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064796729 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1064796731 FBN1 Health Risk Likely pathogenic —
RS1064796732 ELAC2 Health Risk Likely pathogenic —
RS1064796733 COL3A1 Health Risk Likely pathogenic —
RS1064796738 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1064796741 VCP Health Risk Pathogenic/Likely pathogenic —
RS1064796742 ASXL3 Health Risk Pathogenic —
RS1064796744 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1064796745 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1064796748 KRAS Health Risk Pathogenic —
RS1064796750 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1064796752 GRIN2B Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1064796754 IDUA Health Risk Likely pathogenic —
RS1064796756 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Inborn genetic diseases
RS1064796757 CLPB Health Risk Likely pathogenic —
RS1064796758 WAC Health Risk Pathogenic/Likely pathogenic —
RS1064796759 DDX3X Health Risk Pathogenic Thyroid cancer, nonmedullary
RS1064796760 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064796761 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
« Prev 1 ... 120 121 122 123 124 125 126 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →