rs863223448

Orientation

plus

Stabilized

plus

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

Make rs863223448(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134806280

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs863223448
dbSNP (classic)	rs863223448
ClinGen	rs863223448
ebi	rs863223448
HLI	rs863223448
Exac	rs863223448
Gnomad	rs863223448
Varsome	rs863223448
LitVar	rs863223448
Map	rs863223448
PheGenI	rs863223448
Biobank	rs863223448
1000 genomes	rs863223448
hgdp	rs863223448
ensembl	rs863223448
geneview	rs863223448
scholar	rs863223448
google	rs863223448
pharmgkb	rs863223448
gwascentral	rs863223448
openSNP	rs863223448
23andMe	rs863223448
SNPshot	rs863223448
SNPdbe	rs863223448
MSV3d	rs863223448
GWAS Ctlg	rs863223448

Max Magnitude

5.5

ClinVar
Risk	rs863223448(C;C)
Alt	rs863223448(C;C)
Reference	Rs863223448(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	COL5A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000009.11:g.137698126G>C
CLNSRC
CLNACC	RCV000196835.2,