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rs587776540

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(CAAAGTGC;CAAAGTGC) 0 common in clinvar
(CAAAGTGCA;CAAAGTGCA) 0 common in clinvar
(GCACTTTG;GCACTTTG) 0 common in clinvar
Make rs587776540(-;-)
Make rs587776540(-;GCACTTTG)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position118110512
GeneEXT1
is asnp
is mentioned by
dbSNPrs587776540
dbSNP (old)rs587776540
ClinGenrs587776540
ebirs587776540
HLIrs587776540
Exacrs587776540
Varsomers587776540
Maprs587776540
PheGenIrs587776540
Biobankrs587776540
1000 genomesrs587776540
hgdprs587776540
ensemblrs587776540
gopubmedrs587776540
geneviewrs587776540
scholarrs587776540
googlers587776540
pharmgkbrs587776540
gwascentralrs587776540
openSNPrs587776540
23andMers587776540
23andMe allrs587776540
SNP Nexus

SNPshotrs587776540
SNPdbers587776540
MSV3drs587776540
GWAS Ctlgrs587776540
Max Magnitude0
ClinVar
Risk Rs587776540(GCACTTTG;GCACTTTG) rs587776540(-;-)
Alt Rs587776540(GCACTTTG;GCACTTTG) rs587776540(-;-)
Reference Rs587776540(CAAAGTGC;CAAAGTGC)
Significance Pathogenic
Disease Chondrosarcoma
Variation info
Gene EXT1
CLNDBN Chondrosarcoma
Reversed 1
HGVS NC_000008.10:g.119122751_119122758delGCACTTTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002603.4,