rs878853978

Orientation

minus

Stabilized

minus

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

Make rs878853978(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

189045800

Gene

COL5A2

is a	snp
is	mentioned by
dbSNP	rs878853978
dbSNP (classic)	rs878853978
ClinGen	rs878853978
ebi	rs878853978
HLI	rs878853978
Exac	rs878853978
Gnomad	rs878853978
Varsome	rs878853978
LitVar	rs878853978
Map	rs878853978
PheGenI	rs878853978
Biobank	rs878853978
1000 genomes	rs878853978
hgdp	rs878853978
ensembl	rs878853978
geneview	rs878853978
scholar	rs878853978
google	rs878853978
pharmgkb	rs878853978
gwascentral	rs878853978
openSNP	rs878853978
23andMe	rs878853978
SNPshot	rs878853978
SNPdbe	rs878853978
MSV3d	rs878853978
GWAS Ctlg	rs878853978

Max Magnitude

5.5

ClinVar
Risk	rs878853978(A;A)
Alt	rs878853978(A;A)
Reference	Rs878853978(G;G)
Significance	Probable-Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A2
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	1
HGVS	NC_000002.11:g.189910526C>T
CLNSRC
CLNACC	RCV000231765.2,