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rs794727760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 5.5 Ehlers-Danlos Syndrome (EDS) classic type
(C;C) 0 common in clinvar


Make rs794727760(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134817785
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs794727760
dbSNP (classic)rs794727760
ClinGenrs794727760
ebirs794727760
HLIrs794727760
Exacrs794727760
Gnomadrs794727760
Varsomers794727760
LitVarrs794727760
Maprs794727760
PheGenIrs794727760
Biobankrs794727760
1000 genomesrs794727760
hgdprs794727760
ensemblrs794727760
geneviewrs794727760
scholarrs794727760
googlers794727760
pharmgkbrs794727760
gwascentralrs794727760
openSNPrs794727760
23andMers794727760
SNPshotrs794727760
SNPdbers794727760
MSV3drs794727760
GWAS Ctlgrs794727760
Max Magnitude5.5
ClinVar
Risk rs794727760(-;-)
Alt rs794727760(-;-)
Reference Rs794727760(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137709631delC
CLNSRC
CLNACC RCV000179137.1,