rs121912930

Orientation

minus

Stabilized

minus

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

Make rs121912930(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189043177

Gene

COL5A2

is a	snp
is	mentioned by
dbSNP	rs121912930
dbSNP (classic)	rs121912930
ClinGen	rs121912930
ebi	rs121912930
HLI	rs121912930
Exac	rs121912930
Gnomad	rs121912930
Varsome	rs121912930
LitVar	rs121912930
Map	rs121912930
PheGenI	rs121912930
Biobank	rs121912930
1000 genomes	rs121912930
hgdp	rs121912930
ensembl	rs121912930
geneview	rs121912930
scholar	rs121912930
google	rs121912930
pharmgkb	rs121912930
gwascentral	rs121912930
openSNP	rs121912930
23andMe	rs121912930
SNPshot	rs121912930
SNPdbe	rs121912930
MSV3d	rs121912930
GWAS Ctlg	rs121912930

Max Magnitude

5.5

OMIM	120190
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912930(C;C)
Alt	rs121912930(C;C)
Reference	Rs121912930(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A2
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	1
HGVS	NC_000002.11:g.189907903C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018738.24,