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
RS759216909 ZNF335 Health Risk Conflicting classifications of pathogenicity —
RS759216914 BRAT1 Health Risk Pathogenic/Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS759217526 FANCL;VRK2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS759217676 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS759217806 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS759218713 MECR Health Risk Pathogenic/Likely pathogenic Dystonia, childhood-onset
RS759219188 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS759219564 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS759219567 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS759219683 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS759220039 HSPG2 Health Risk Pathogenic/Likely pathogenic —
RS759220275 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS759220318 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS759220912 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS759220971 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS759221642 KCTD1 Health Risk Conflicting classifications of pathogenicity Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
RS759222387 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS759222737 DSCAML1 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Abnormal brain morphology
RS759223856 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS759224168 DNAAF19 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 17
RS759224338 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS759225800 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS759226183 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS759226981 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS759227592 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis
RS759227622 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS759228432 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759228543 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS759229398 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS759229505 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS759229667 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS759231562 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS759231634 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS759232053 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS759232092 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS75923324 BLTP1 Health Risk Conflicting classifications of pathogenicity Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS759233586 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS759235645 SETBP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8
RS759235726 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS759235916 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS759236439 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS759236506 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759237307 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS759237437 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS759239515 DOCK8 Health Risk Conflicting classifications of pathogenicity —
RS759239606 TFAP2B Health Risk Likely pathogenic Char syndrome, Char syndrome
RS759240190 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome
RS759242053 BUB1B Health Risk Pathogenic/Likely pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS759242559 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Congenital myopathy 2b
RS759242666 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759242886 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS759244819 ALG12 Health Risk Pathogenic/Likely pathogenic ALG12-congenital disorder of glycosylation, Inborn genetic diseases
RS759245832 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS759246439 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS759246551 NACC1 Health Risk Conflicting classifications of pathogenicity —
RS759246754 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS759248879 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759249105 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS759249497 RTTN Health Risk Pathogenic —
RS759250095 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS759250272 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS759251034 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS759251329 PIGZ Health Risk Conflicting classifications of pathogenicity —
RS759251401 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS759251812 NAXE Health Risk Pathogenic Encephalopathy, progressive
RS759252565 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS759252777 ABCC2 Health Risk Pathogenic —
RS759253107 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS759254028 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS759254037 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS759254294 TACO1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 8
RS759254680 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS759255030 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfocysteinuria
RS759255307 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS759255427 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS759255682 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS759255743 USH2A Health Risk Pathogenic —
RS759256016 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS759256816 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS759257550 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS759257554 FREM2 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Isolated cryptophthalmia
RS759257949 ACD Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 6
RS759258072 PDGFRB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS759258191 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS75925841 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS759259512 TNXB Health Risk Likely pathogenic —
RS759259550 COQ8B Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 9
RS759259870 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS759262253 NPHP3 Health Risk Pathogenic Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
RS759262489 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS759263820 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS759265277 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS759266003 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS759267155 COPB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759267222 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KAT6A-related disorder
RS759267330 TG Health Risk Pathogenic/Likely pathogenic Iodotyrosyl coupling defect, Congenital hypothyroidism
RS759268252 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Pendred syndrome
RS759268958 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS759269008 CSRP3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS759269094 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
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