rs863223452

Orientation

plus

Stabilized

plus

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

Make rs863223452(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134815629

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs863223452
dbSNP (classic)	rs863223452
ClinGen	rs863223452
ebi	rs863223452
HLI	rs863223452
Exac	rs863223452
Gnomad	rs863223452
Varsome	rs863223452
LitVar	rs863223452
Map	rs863223452
PheGenI	rs863223452
Biobank	rs863223452
1000 genomes	rs863223452
hgdp	rs863223452
ensembl	rs863223452
geneview	rs863223452
scholar	rs863223452
google	rs863223452
pharmgkb	rs863223452
gwascentral	rs863223452
openSNP	rs863223452
23andMe	rs863223452
SNPshot	rs863223452
SNPdbe	rs863223452
MSV3d	rs863223452
GWAS Ctlg	rs863223452

Max Magnitude

5.5

ClinVar
Risk	rs863223452(A;A)
Alt	rs863223452(A;A)
Reference	Rs863223452(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	COL5A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000009.11:g.137707475G>A
CLNSRC
CLNACC	RCV000197960.4,