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rs1060502242

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1060502242(-;-)
Make rs1060502242(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position134691030
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs1060502242
dbSNP (old)rs1060502242
ClinGenrs1060502242
ebirs1060502242
HLIrs1060502242
Exacrs1060502242
Gnomadrs1060502242
Varsomers1060502242
LitVarrs1060502242
Maprs1060502242
PheGenIrs1060502242
Biobankrs1060502242
1000 genomesrs1060502242
hgdprs1060502242
ensemblrs1060502242
gopubmedrs1060502242
geneviewrs1060502242
scholarrs1060502242
googlers1060502242
pharmgkbrs1060502242
gwascentralrs1060502242
openSNPrs1060502242
23andMers1060502242
23andMe allrs1060502242
SNPshotrs1060502242
SNPdbers1060502242
MSV3drs1060502242
GWAS Ctlgrs1060502242
Max Magnitude0
ClinVar
Risk rs1060502242(-;-)
Alt rs1060502242(-;-)
Reference Rs1060502242(AG;AG)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137582876_137582877delAG
CLNSRC
CLNACC RCV000477019.1,