rs1060502255

Orientation

plus

Stabilized

plus

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

Make rs1060502255(-;-)

Make rs1060502255(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134817804

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs1060502255
dbSNP (classic)	rs1060502255
ClinGen	rs1060502255
ebi	rs1060502255
HLI	rs1060502255
Exac	rs1060502255
Gnomad	rs1060502255
Varsome	rs1060502255
LitVar	rs1060502255
Map	rs1060502255
PheGenI	rs1060502255
Biobank	rs1060502255
1000 genomes	rs1060502255
hgdp	rs1060502255
ensembl	rs1060502255
geneview	rs1060502255
scholar	rs1060502255
google	rs1060502255
pharmgkb	rs1060502255
gwascentral	rs1060502255
openSNP	rs1060502255
23andMe	rs1060502255
SNPshot	rs1060502255
SNPdbe	rs1060502255
MSV3d	rs1060502255
GWAS Ctlg	rs1060502255

Max Magnitude

0

ClinVar
Risk	rs1060502255(-;-)
Alt	rs1060502255(-;-)
Reference	Rs1060502255(A;A)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137709650delA
CLNSRC
CLNACC	RCV000459184.1,