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
RS543738044 TSC2 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Lymphangiomyomatosis
RS543746446 COL6A5 Health Risk Conflicting classifications of pathogenicity —
RS543748012 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS543750772 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy
RS543752177 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases
RS543759021 ELP1 Health Risk Pathogenic —
RS543760014 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS543763112 MYH11;NDE1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS543767268 KNDC1 Health Risk Conflicting classifications of pathogenicity —
RS543770603 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS543778192 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543789215 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS543791953 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS543792941 IGF1R Health Risk Conflicting classifications of pathogenicity —
RS543805444 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome, Schwartz-Jampel syndrome
RS543809032 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS543811185 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS543819845 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS543820987 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS543829328 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS543831222 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS543843286 ZFHX2 Health Risk Conflicting classifications of pathogenicity —
RS543843635 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS543843695 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS543844534 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS543845504 LOXHD1 Health Risk Likely pathogenic —
RS543852763 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS543859669 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS543860009 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS543862977 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS543866098 WFS1 Health Risk Pathogenic/Likely pathogenic —
RS543871957 TMPRSS15 Health Risk Conflicting classifications of pathogenicity —
RS543886209 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS543888641 SON Health Risk Conflicting classifications of pathogenicity SON-related disorder, SON-related disorder
RS543890594 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS543890845 LPIN2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Majeed syndrome
RS543891914 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS543893560 ZFHX3 Health Risk Conflicting classifications of pathogenicity —
RS543912318 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543944909 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS543946816 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS543949463 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS543954194 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, KRIT1-related disorder
RS543961404 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS543967244 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS543969761 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS543979506 EARS2 Health Risk Conflicting classifications of pathogenicity EARS2-related disorder, EARS2-related disorder
RS543979536 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS543981282 B3GALNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS543982780 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS543990042 KIF23 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS543999548 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS544003228 MMP13 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Missouri type
RS544004654 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS544015151 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7-related disorder
RS544017143 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS544018977 LYST Health Risk Conflicting classifications of pathogenicity —
RS544027755 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases
RS544036856 CHMP1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS544037698 CRX Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 7
RS544057798 PBX1 Health Risk Pathogenic See cases, Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss
RS544069848 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS544076556 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS544077645 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS544080483 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency
RS544081614 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS544082594 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS544086490 SPOP Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies, Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
RS544088874 FUS Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 6
RS544093099 KCNJ5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS544100161 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS544106839 NPAT Health Risk Conflicting classifications of pathogenicity —
RS544107644 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 28
RS544110604 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS544117297 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS544118013 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS544122376 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS544123874 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS544129099 FXN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS544132101 TFAM Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
RS544133684 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS544136842 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS544145401 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS544172715 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS544185938 DNHD1 Health Risk Pathogenic —
RS544200886 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS544203837 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS544204280 POLR3A Health Risk Conflicting classifications of pathogenicity —
RS544215765 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS544216926 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS544222338 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS544223875 VPS41 Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive 29
RS544229002 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS544234928 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS544236153 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS544236849 FOXRED1 Health Risk Conflicting classifications of pathogenicity —
RS544239478 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, PANK2-related disorder
RS544240809 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS544249449 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS544254673 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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