rs1060502256

Orientation

plus

Stabilized

plus

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

Make rs1060502256(-;-)

Make rs1060502256(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134801989

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs1060502256
dbSNP (classic)	rs1060502256
ClinGen	rs1060502256
ebi	rs1060502256
HLI	rs1060502256
Exac	rs1060502256
Gnomad	rs1060502256
Varsome	rs1060502256
LitVar	rs1060502256
Map	rs1060502256
PheGenI	rs1060502256
Biobank	rs1060502256
1000 genomes	rs1060502256
hgdp	rs1060502256
ensembl	rs1060502256
geneview	rs1060502256
scholar	rs1060502256
google	rs1060502256
pharmgkb	rs1060502256
gwascentral	rs1060502256
openSNP	rs1060502256
23andMe	rs1060502256
SNPshot	rs1060502256
SNPdbe	rs1060502256
MSV3d	rs1060502256
GWAS Ctlg	rs1060502256

Max Magnitude

0

ClinVar
Risk	rs1060502256(-;-)
Alt	rs1060502256(-;-)
Reference	Rs1060502256(C;C)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137693835delC
CLNSRC
CLNACC	RCV000468482.1,