rs770598613

Orientation

plus

Stabilized

plus

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

Make rs770598613(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

189110224

Gene

COL5A2

is a	snp
is	mentioned by
dbSNP	rs770598613
dbSNP (classic)	rs770598613
ClinGen	rs770598613
ebi	rs770598613
HLI	rs770598613
Exac	rs770598613
Gnomad	rs770598613
Varsome	rs770598613
LitVar	rs770598613
Map	rs770598613
PheGenI	rs770598613
Biobank	rs770598613
1000 genomes	rs770598613
hgdp	rs770598613
ensembl	rs770598613
geneview	rs770598613
scholar	rs770598613
google	rs770598613
pharmgkb	rs770598613
gwascentral	rs770598613
openSNP	rs770598613
23andMe	rs770598613
SNPshot	rs770598613
SNPdbe	rs770598613
MSV3d	rs770598613
GWAS Ctlg	rs770598613

Max Magnitude

5.5

ClinVar
Risk	rs770598613(G;G)
Alt	rs770598613(G;G)
Reference	Rs770598613(C;C)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	COL5A2
CLNDBN	not provided
Reversed	0
HGVS	NC_000002.11:g.189974950C>G
CLNSRC
CLNACC	RCV000196203.3,