rs863223445

Orientation

plus

Stabilized

plus

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

Make rs863223445(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134801990

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs863223445
dbSNP (classic)	rs863223445
ClinGen	rs863223445
ebi	rs863223445
HLI	rs863223445
Exac	rs863223445
Gnomad	rs863223445
Varsome	rs863223445
LitVar	rs863223445
Map	rs863223445
PheGenI	rs863223445
Biobank	rs863223445
1000 genomes	rs863223445
hgdp	rs863223445
ensembl	rs863223445
geneview	rs863223445
scholar	rs863223445
google	rs863223445
pharmgkb	rs863223445
gwascentral	rs863223445
openSNP	rs863223445
23andMe	rs863223445
SNPshot	rs863223445
SNPdbe	rs863223445
MSV3d	rs863223445
GWAS Ctlg	rs863223445

Max Magnitude

5.5

ClinVar
Risk	rs863223445(A;A)
Alt	rs863223445(A;A)
Reference	Rs863223445(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	COL5A1
CLNDBN	not provided
Reversed	0
HGVS	NC_000009.11:g.137693836G>A
CLNSRC
CLNACC	RCV000199703.1,