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
RS529866697 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Inborn genetic diseases
RS529868327 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS529873727 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS529884745 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS529885772 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS529890510 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS529890891 LRP1B Health Risk Conflicting classifications of pathogenicity —
RS529893298 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS529894272 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS529905904 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS529911259 SKIC3 Health Risk Conflicting classifications of pathogenicity —
RS529912877 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS529914770 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS529920914 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS529924080 TRPV6 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism, transient neonatal
RS529924262 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Cardiovascular phenotype
RS529940373 HOGA1 Health Risk Pathogenic —
RS529944004 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS529945350 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS529946385 PSMB8 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS529946415 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Hyperinsulinemic hypoglycemia
RS529954883 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS529957748 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS529960318 SNX14 Health Risk Conflicting classifications of pathogenicity —
RS529961953 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS529962978 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, PCDH15-related disorder
RS529972175 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS529977616 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS529979202 ENAM Health Risk Pathogenic/Likely pathogenic Amelogenesis imperfecta type 1C, Amelogenesis imperfecta - hypoplastic autosomal dominant - local
RS529981007 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Primary dilated cardiomyopathy
RS529997128 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS529998714 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS529998879 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS530008202 SPEG Health Risk Conflicting classifications of pathogenicity —
RS530013543 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS530021751 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS530032228 NAA60 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS530035386 IARS1 Health Risk Conflicting classifications of pathogenicity —
RS530039573 VSX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS530040765 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS530045841 SLC25A46 Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS530055219 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS530059069 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS530062090 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS530064548 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS530066221 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, Left ventricular noncompaction 1
RS530071578 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS530073586 IKZF1 Health Risk Pathogenic Pancytopenia due to IKZF1 mutations, Pancytopenia due to IKZF1 mutations
RS530079482 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS530083972 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS530083993 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS530087550 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS530087850 HTRA1 Health Risk Conflicting classifications of pathogenicity —
RS530091118 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS530097220 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS530109812 SDR9C7 Health Risk Pathogenic Ichthyosis, congenital
RS530120957 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS530138013 HSPG2 Health Risk Pathogenic —
RS530142447 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS530147851 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Branchiootorenal syndrome 1
RS530152803 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS530157547 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS530163400 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS530171166 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS530181166 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS530184161 SLC24A5 Health Risk Pathogenic —
RS530202330 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS530210018 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS530213856 MDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS530220412 ATP2B4 Health Risk Conflicting classifications of pathogenicity —
RS530233908 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS530235885 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
RS530250252 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS530251354 CYB5R3 Health Risk Likely pathogenic —
RS530255181 SHANK3 Health Risk Conflicting classifications of pathogenicity Schizophrenia 15, Phelan-McDermid syndrome
RS530256606 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related disorder
RS530259403 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Autosomal dominant keratitis
RS530269705 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS530270916 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS530285485 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS530286781 FCHO1 Health Risk Pathogenic Severe congenital neutropenia, Immunodeficiency 76
RS530287837 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS530291008 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS530291076 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS530300374 OBSL1 Health Risk Pathogenic —
RS530310740 SOX17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS530314472 TREM2 Health Risk Conflicting classifications of pathogenicity —
RS530318278 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS530318579 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS530319460 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS530322096 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Late-onset retinal degeneration, Isolated microphthalmia 5
RS530337132 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS530338718 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS530348521 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14
RS530361602 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Developmental and epileptic encephalopathy
RS530387460 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS530391015 INF2 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis, Proteinuria
RS530393871 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS530395989 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS530403338 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
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