rs863223454

Orientation

plus

Stabilized

plus

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

Make rs863223454(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134818707

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs863223454
dbSNP (classic)	rs863223454
ClinGen	rs863223454
ebi	rs863223454
HLI	rs863223454
Exac	rs863223454
Gnomad	rs863223454
Varsome	rs863223454
LitVar	rs863223454
Map	rs863223454
PheGenI	rs863223454
Biobank	rs863223454
1000 genomes	rs863223454
hgdp	rs863223454
ensembl	rs863223454
geneview	rs863223454
scholar	rs863223454
google	rs863223454
pharmgkb	rs863223454
gwascentral	rs863223454
openSNP	rs863223454
23andMe	rs863223454
SNPshot	rs863223454
SNPdbe	rs863223454
MSV3d	rs863223454
GWAS Ctlg	rs863223454

Max Magnitude

5.5

ClinVar
Risk	rs863223454(T;T)
Alt	rs863223454(T;T)
Reference	Rs863223454(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL5A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000009.11:g.137710553C>T
CLNSRC
CLNACC	RCV000199962.1,