rs1060502259

Orientation

plus

Stabilized

plus

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

Make rs1060502259(-;-)

Make rs1060502259(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134818657

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs1060502259
dbSNP (classic)	rs1060502259
ClinGen	rs1060502259
ebi	rs1060502259
HLI	rs1060502259
Exac	rs1060502259
Gnomad	rs1060502259
Varsome	rs1060502259
LitVar	rs1060502259
Map	rs1060502259
PheGenI	rs1060502259
Biobank	rs1060502259
1000 genomes	rs1060502259
hgdp	rs1060502259
ensembl	rs1060502259
geneview	rs1060502259
scholar	rs1060502259
google	rs1060502259
pharmgkb	rs1060502259
gwascentral	rs1060502259
openSNP	rs1060502259
23andMe	rs1060502259
SNPshot	rs1060502259
SNPdbe	rs1060502259
MSV3d	rs1060502259
GWAS Ctlg	rs1060502259

Max Magnitude

0

ClinVar
Risk	rs1060502259(-;-)
Alt	rs1060502259(-;-)
Reference	Rs1060502259(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137710503delG
CLNSRC
CLNACC	RCV000470459.1,