rs121912921

Orientation

plus

Stabilized

plus

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

Make rs121912921(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188998693

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912921
dbSNP (classic)	rs121912921
ClinGen	rs121912921
ebi	rs121912921
HLI	rs121912921
Exac	rs121912921
Gnomad	rs121912921
Varsome	rs121912921
LitVar	rs121912921
Map	rs121912921
PheGenI	rs121912921
Biobank	rs121912921
1000 genomes	rs121912921
hgdp	rs121912921
ensembl	rs121912921
geneview	rs121912921
scholar	rs121912921
google	rs121912921
pharmgkb	rs121912921
gwascentral	rs121912921
openSNP	rs121912921
23andMe	rs121912921
SNPshot	rs121912921
SNPdbe	rs121912921
MSV3d	rs121912921
GWAS Ctlg	rs121912921

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121912921(A;A)
Alt	rs121912921(A;A)
Reference	Rs121912921(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.189863419G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018763.28,