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rs1057518871

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518871(-;-)
Make rs1057518871(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position134798412
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs1057518871
dbSNP (classic)rs1057518871
ClinGenrs1057518871
ebirs1057518871
HLIrs1057518871
Exacrs1057518871
Gnomadrs1057518871
Varsomers1057518871
LitVarrs1057518871
Maprs1057518871
PheGenIrs1057518871
Biobankrs1057518871
1000 genomesrs1057518871
hgdprs1057518871
ensemblrs1057518871
geneviewrs1057518871
scholarrs1057518871
googlers1057518871
pharmgkbrs1057518871
gwascentralrs1057518871
openSNPrs1057518871
23andMers1057518871
23andMe allrs1057518871
SNPshotrs1057518871
SNPdbers1057518871
MSV3drs1057518871
GWAS Ctlgrs1057518871
Max Magnitude0
ClinVar
Risk rs1057518871(-;-)
Alt rs1057518871(-;-)
Reference Rs1057518871(C;C)
Significance Probable-Pathogenic
Disease Atrophic scars Bilateral talipes equinovarus Bruising susceptibility Cutis laxa Edema of the dorsum of feet Hyperextensible skin Joint hyperflexibility Joint hypermobility Soft skin Talipes equinovarus
Variation info
Gene COL5A1
CLNDBN Atrophic scars Bilateral talipes equinovarus Bruising susceptibility Cutis laxa Edema of the dorsum of feet Hyperextensible skin Joint hyperflexibility Joint hypermobility Soft skin Talipes equinovarus
Reversed 0
HGVS NC_000009.11:g.137690258delC
CLNSRC
CLNACC RCV000415033.1,