rs863223453

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	5.5	Ehlers-Danlos Syndrome (EDS) classic type
(G;G)	0	common in clinvar

Make rs863223453(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134817831

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs863223453
dbSNP (classic)	rs863223453
ClinGen	rs863223453
ebi	rs863223453
HLI	rs863223453
Exac	rs863223453
Gnomad	rs863223453
Varsome	rs863223453
LitVar	rs863223453
Map	rs863223453
PheGenI	rs863223453
Biobank	rs863223453
1000 genomes	rs863223453
hgdp	rs863223453
ensembl	rs863223453
geneview	rs863223453
scholar	rs863223453
google	rs863223453
pharmgkb	rs863223453
gwascentral	rs863223453
openSNP	rs863223453
23andMe	rs863223453
SNPshot	rs863223453
SNPdbe	rs863223453
MSV3d	rs863223453
GWAS Ctlg	rs863223453

Max Magnitude

5.5

ClinVar
Risk	rs863223453(C;C)
Alt	rs863223453(C;C)
Reference	Rs863223453(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	COL5A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000009.11:g.137709677G>C
CLNSRC
CLNACC	RCV000196211.1,