rs863223471

Orientation

plus

Stabilized

plus

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

Make rs863223471(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134774874

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs863223471
dbSNP (classic)	rs863223471
ClinGen	rs863223471
ebi	rs863223471
HLI	rs863223471
Exac	rs863223471
Gnomad	rs863223471
Varsome	rs863223471
LitVar	rs863223471
Map	rs863223471
PheGenI	rs863223471
Biobank	rs863223471
1000 genomes	rs863223471
hgdp	rs863223471
ensembl	rs863223471
geneview	rs863223471
scholar	rs863223471
google	rs863223471
pharmgkb	rs863223471
gwascentral	rs863223471
openSNP	rs863223471
23andMe	rs863223471
SNPshot	rs863223471
SNPdbe	rs863223471
MSV3d	rs863223471
GWAS Ctlg	rs863223471

Max Magnitude

5.5

ClinVar
Risk	rs863223471(T;T)
Alt	rs863223471(T;T)
Reference	Rs863223471(-;-)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	COL5A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000009.11:g.137666720_137666721insT
CLNSRC
CLNACC	RCV000195500.1,