rs863223501

Orientation

minus

Stabilized

minus

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

Make rs863223501(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

189104271

Gene

COL5A2

is a	snp
is	mentioned by
dbSNP	rs863223501
dbSNP (classic)	rs863223501
ClinGen	rs863223501
ebi	rs863223501
HLI	rs863223501
Exac	rs863223501
Gnomad	rs863223501
Varsome	rs863223501
LitVar	rs863223501
Map	rs863223501
PheGenI	rs863223501
Biobank	rs863223501
1000 genomes	rs863223501
hgdp	rs863223501
ensembl	rs863223501
geneview	rs863223501
scholar	rs863223501
google	rs863223501
pharmgkb	rs863223501
gwascentral	rs863223501
openSNP	rs863223501
23andMe	rs863223501
SNPshot	rs863223501
SNPdbe	rs863223501
MSV3d	rs863223501
GWAS Ctlg	rs863223501

Max Magnitude

5.5

ClinVar
Risk	rs863223501(A;A)
Alt	rs863223501(A;A)
Reference	Rs863223501(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	COL5A2
CLNDBN	not provided
Reversed	1
HGVS	NC_000002.11:g.189968997C>T
CLNSRC
CLNACC	RCV000198454.1,