rs794727114

Orientation

plus

Stabilized

plus

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

Make rs794727114(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134752588

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs794727114
dbSNP (classic)	rs794727114
ClinGen	rs794727114
ebi	rs794727114
HLI	rs794727114
Exac	rs794727114
Gnomad	rs794727114
Varsome	rs794727114
LitVar	rs794727114
Map	rs794727114
PheGenI	rs794727114
Biobank	rs794727114
1000 genomes	rs794727114
hgdp	rs794727114
ensembl	rs794727114
geneview	rs794727114
scholar	rs794727114
google	rs794727114
pharmgkb	rs794727114
gwascentral	rs794727114
openSNP	rs794727114
23andMe	rs794727114
SNPshot	rs794727114
SNPdbe	rs794727114
MSV3d	rs794727114
GWAS Ctlg	rs794727114

Max Magnitude

5.5

ClinVar
Risk	rs794727114(C;C)
Alt	rs794727114(C;C)
Reference	Rs794727114(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137644434G>C
CLNSRC
CLNACC	RCV000174659.1,