rs1060502258

Orientation

plus

Stabilized

plus

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

Make rs1060502258(G;T)

Make rs1060502258(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134767009

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs1060502258
dbSNP (classic)	rs1060502258
ClinGen	rs1060502258
ebi	rs1060502258
HLI	rs1060502258
Exac	rs1060502258
Gnomad	rs1060502258
Varsome	rs1060502258
LitVar	rs1060502258
Map	rs1060502258
PheGenI	rs1060502258
Biobank	rs1060502258
1000 genomes	rs1060502258
hgdp	rs1060502258
ensembl	rs1060502258
geneview	rs1060502258
scholar	rs1060502258
google	rs1060502258
pharmgkb	rs1060502258
gwascentral	rs1060502258
openSNP	rs1060502258
23andMe	rs1060502258
SNPshot	rs1060502258
SNPdbe	rs1060502258
MSV3d	rs1060502258
GWAS Ctlg	rs1060502258

Max Magnitude

0

ClinVar
Risk	rs1060502258(T;T)
Alt	rs1060502258(T;T)
Reference	Rs1060502258(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.137658855G>T
CLNSRC
CLNACC	RCV000463811.1,