rs1057518871

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057518871(-;-)

Make rs1057518871(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134798412

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs1057518871
dbSNP (classic)	rs1057518871
ClinGen	rs1057518871
ebi	rs1057518871
HLI	rs1057518871
Exac	rs1057518871
Gnomad	rs1057518871
Varsome	rs1057518871
LitVar	rs1057518871
Map	rs1057518871
PheGenI	rs1057518871
Biobank	rs1057518871
1000 genomes	rs1057518871
hgdp	rs1057518871
ensembl	rs1057518871
geneview	rs1057518871
scholar	rs1057518871
google	rs1057518871
pharmgkb	rs1057518871
gwascentral	rs1057518871
openSNP	rs1057518871
23andMe	rs1057518871
SNPshot	rs1057518871
SNPdbe	rs1057518871
MSV3d	rs1057518871
GWAS Ctlg	rs1057518871

Max Magnitude

0

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,