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
RS749027104 RARS1 Health Risk Pathogenic/Likely pathogenic —
RS749027430 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS749027624 CLCN7 Health Risk Conflicting classifications of pathogenicity Autosomal dominant osteopetrosis 2, Autosomal dominant osteopetrosis 2
RS749027804 CCDC47 Health Risk Likely pathogenic Trichohepatoneurodevelopmental syndrome, Global developmental delay with dysmorphic features
RS74902839 CDHR1 Health Risk Pathogenic —
RS749029919 GRHPR Health Risk Pathogenic —
RS749030456 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Hereditary cancer-predisposing syndrome
RS749030472 BLOC1S3 Health Risk Conflicting classifications of pathogenicity BLOC1S3-related disorder, BLOC1S3-related disorder
RS749031775 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS749032674 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS749032742 RYR2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS749033513 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS749034995 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS749035949 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS749036329 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS749036398 CNGA3 Health Risk Pathogenic Abnormality of the eye, Abnormality of the eye
RS749036865 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS749037028 COL6A3 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS74903725 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, CDHR1-related disorder
RS749037674 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS749038326 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS749038401 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS749038454 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS749039924 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS74904335 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS749044865 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS749045427 FYCO1 Health Risk Pathogenic FYCO1-related disorder, Inborn genetic diseases
RS749047676 GALT Health Risk Likely pathogenic —
RS749048388 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS749048646 EARS2 Health Risk Likely pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS749049179 PCSK9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS749049284 IRF9 Health Risk Conflicting classifications of pathogenicity —
RS749049752 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS749051278 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS749052145 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS749052307 KLLN;PTEN Health Risk Conflicting classifications of pathogenicity KLLN-related disorder, Cowden syndrome
RS749052483 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS749052818 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS749052963 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS749053130 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS74905373 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS749054106 FAM161A Health Risk Pathogenic —
RS749054531 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS749055007 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Inborn genetic diseases
RS749055881 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8
RS749056160 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8
RS749056300 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS749057056 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749060207 ABCA4 Health Risk Likely pathogenic —
RS749061599 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS749061654 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS749062863 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749063844 OPA1 Health Risk Conflicting classifications of pathogenicity Abortive cerebellar ataxia, Abortive cerebellar ataxia
RS749065127 SLC5A2 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS749066913 ALAD Health Risk Pathogenic Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
RS749067142 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS749067246 LRPPRC Health Risk Pathogenic —
RS749069343 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS749069446 GNPAT Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS749069550 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS749069560 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS749069817 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS749070255 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749070624 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS749071692 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Inborn genetic diseases
RS749071713 RERE Health Risk Conflicting classifications of pathogenicity —
RS749072203 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS749073077 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS749073173 MASP1 Health Risk Likely pathogenic 3MC syndrome 1, 3MC syndrome 1
RS749073455 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Anterior segment dysgenesis 6
RS749074594 MRM2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 17, Mitochondrial DNA depletion syndrome 17
RS749075927 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS749076427 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS749076525 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS749077460 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS749077987 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, 7 conditions
RS749078410 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS749078502 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749079132 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS749079348 INPPL1 Health Risk Pathogenic —
RS749079722 MCM2 Health Risk Conflicting classifications of pathogenicity —
RS749080227 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS749081117 TTN Health Risk Conflicting classifications of pathogenicity —
RS749081811 SKIC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749081972 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Brugada syndrome 1
RS749082693 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749082955 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS749083371 CABP2 Health Risk Conflicting classifications of pathogenicity —
RS749083527 BMP4 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 11, Microphthalmia with brain and digit anomalies
RS749083759 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Autosomal dominant ichthyosis vulgaris
RS749085179 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS749085322 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS749085650 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS749085653 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS749086771 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS749087566 DSG4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749091984 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS749092558 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749093771 COL17A1 Health Risk Likely pathogenic —
RS749093832 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
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