Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060502256

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502256(-;-)
Make rs1060502256(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position134801989
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs1060502256
dbSNP (old)rs1060502256
ClinGenrs1060502256
ebirs1060502256
HLIrs1060502256
Exacrs1060502256
Gnomadrs1060502256
Varsomers1060502256
Maprs1060502256
PheGenIrs1060502256
Biobankrs1060502256
1000 genomesrs1060502256
hgdprs1060502256
ensemblrs1060502256
gopubmedrs1060502256
geneviewrs1060502256
scholarrs1060502256
googlers1060502256
pharmgkbrs1060502256
gwascentralrs1060502256
openSNPrs1060502256
23andMers1060502256
23andMe allrs1060502256
SNPshotrs1060502256
SNPdbers1060502256
MSV3drs1060502256
GWAS Ctlgrs1060502256
Max Magnitude0
ClinVar
Risk rs1060502256(-;-)
Alt rs1060502256(-;-)
Reference Rs1060502256(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.137693835delC
CLNSRC
CLNACC RCV000468482.1,