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rs1057518653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518653(-;-)
Make rs1057518653(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position134812622
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs1057518653
dbSNP (old)rs1057518653
ClinGenrs1057518653
ebirs1057518653
HLIrs1057518653
Exacrs1057518653
Gnomadrs1057518653
Varsomers1057518653
Maprs1057518653
PheGenIrs1057518653
Biobankrs1057518653
1000 genomesrs1057518653
hgdprs1057518653
ensemblrs1057518653
gopubmedrs1057518653
geneviewrs1057518653
scholarrs1057518653
googlers1057518653
pharmgkbrs1057518653
gwascentralrs1057518653
openSNPrs1057518653
23andMers1057518653
23andMe allrs1057518653
SNPshotrs1057518653
SNPdbers1057518653
MSV3drs1057518653
GWAS Ctlgrs1057518653
Max Magnitude0
ClinVar
Risk rs1057518653(-;-)
Alt rs1057518653(-;-)
Reference Rs1057518653(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137704468delT
CLNSRC
CLNACC RCV000415258.1,