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rs794727114

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727114(C;C)
Make rs794727114(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134752588
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs794727114
ebirs794727114
HLIrs794727114
Exacrs794727114
Varsomers794727114
Maprs794727114
PheGenIrs794727114
hapmaprs794727114
1000 genomesrs794727114
hgdprs794727114
ensemblrs794727114
gopubmedrs794727114
geneviewrs794727114
scholarrs794727114
googlers794727114
pharmgkbrs794727114
gwascentralrs794727114
openSNPrs794727114
23andMers794727114
23andMe allrs794727114
SNP Nexus

SNPshotrs794727114
SNPdbers794727114
MSV3drs794727114
GWAS Ctlgrs794727114
Max Magnitude0
ClinVar
Risk rs794727114(C;C)
Alt rs794727114(C;C)
Reference rs794727114(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137644434G>C
CLNSRC
CLNACC RCV000174659.1,