rs121912919

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6.5	Ehlers-Danlos Syndrome (EDS) type 4
(G;G)	0	common in clinvar

Make rs121912919(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188991678

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912919
dbSNP (classic)	rs121912919
ClinGen	rs121912919
ebi	rs121912919
HLI	rs121912919
Exac	rs121912919
Gnomad	rs121912919
Varsome	rs121912919
LitVar	rs121912919
Map	rs121912919
PheGenI	rs121912919
Biobank	rs121912919
1000 genomes	rs121912919
hgdp	rs121912919
ensembl	rs121912919
geneview	rs121912919
scholar	rs121912919
google	rs121912919
pharmgkb	rs121912919
gwascentral	rs121912919
openSNP	rs121912919
23andMe	rs121912919
SNPshot	rs121912919
SNPdbe	rs121912919
MSV3d	rs121912919
GWAS Ctlg	rs121912919

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121912919(A;A)
Alt	rs121912919(A;A)
Reference	Rs121912919(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189856404G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087368.1,