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rs1060502259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502259(-;-)
Make rs1060502259(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position134818657
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs1060502259
dbSNP (old)rs1060502259
ClinGenrs1060502259
ebirs1060502259
HLIrs1060502259
Exacrs1060502259
Gnomadrs1060502259
Varsomers1060502259
LitVarrs1060502259
Maprs1060502259
PheGenIrs1060502259
Biobankrs1060502259
1000 genomesrs1060502259
hgdprs1060502259
ensemblrs1060502259
gopubmedrs1060502259
geneviewrs1060502259
scholarrs1060502259
googlers1060502259
pharmgkbrs1060502259
gwascentralrs1060502259
openSNPrs1060502259
23andMers1060502259
23andMe allrs1060502259
SNPshotrs1060502259
SNPdbers1060502259
MSV3drs1060502259
GWAS Ctlgrs1060502259
Max Magnitude0
ClinVar
Risk rs1060502259(-;-)
Alt rs1060502259(-;-)
Reference Rs1060502259(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.137710503delG
CLNSRC
CLNACC RCV000470459.1,