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rs772445337

From SNPedia

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


Make rs772445337(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134812641
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs772445337
dbSNP (classic)rs772445337
ClinGenrs772445337
ebirs772445337
HLIrs772445337
Exacrs772445337
Gnomadrs772445337
Varsomers772445337
LitVarrs772445337
Maprs772445337
PheGenIrs772445337
Biobankrs772445337
1000 genomesrs772445337
hgdprs772445337
ensemblrs772445337
geneviewrs772445337
scholarrs772445337
googlers772445337
pharmgkbrs772445337
gwascentralrs772445337
openSNPrs772445337
23andMers772445337
SNPshotrs772445337
SNPdbers772445337
MSV3drs772445337
GWAS Ctlgrs772445337
Max Magnitude5.5
ClinVar
Risk rs772445337(A;A)
Alt rs772445337(A;A)
Reference Rs772445337(G;G)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137704487G>A
CLNSRC
CLNACC RCV000178644.1,