rs863223475

Orientation

plus

Stabilized

plus

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

Make rs863223475(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134835191

Gene	COL5A1, LOC101448202

is a	snp
is	mentioned by
dbSNP	rs863223475
dbSNP (classic)	rs863223475
ClinGen	rs863223475
ebi	rs863223475
HLI	rs863223475
Exac	rs863223475
Gnomad	rs863223475
Varsome	rs863223475
LitVar	rs863223475
Map	rs863223475
PheGenI	rs863223475
Biobank	rs863223475
1000 genomes	rs863223475
hgdp	rs863223475
ensembl	rs863223475
geneview	rs863223475
scholar	rs863223475
google	rs863223475
pharmgkb	rs863223475
gwascentral	rs863223475
openSNP	rs863223475
23andMe	rs863223475
SNPshot	rs863223475
SNPdbe	rs863223475
MSV3d	rs863223475
GWAS Ctlg	rs863223475

Max Magnitude

5.5

ClinVar
Risk	rs863223475(T;T)
Alt	rs863223475(T;T)
Reference	Rs863223475(-;-)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL5A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000009.11:g.137727037dupT
CLNSRC
CLNACC	RCV000197580.1,