rs121912916

Orientation

plus

Stabilized

plus

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

Make rs121912916(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189006207

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912916
dbSNP (classic)	rs121912916
ClinGen	rs121912916
ebi	rs121912916
HLI	rs121912916
Exac	rs121912916
Gnomad	rs121912916
Varsome	rs121912916
LitVar	rs121912916
Map	rs121912916
PheGenI	rs121912916
Biobank	rs121912916
1000 genomes	rs121912916
hgdp	rs121912916
ensembl	rs121912916
geneview	rs121912916
scholar	rs121912916
google	rs121912916
pharmgkb	rs121912916
gwascentral	rs121912916
openSNP	rs121912916
23andMe	rs121912916
SNPshot	rs121912916
SNPdbe	rs121912916
MSV3d	rs121912916
GWAS Ctlg	rs121912916

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121912916(A;A)
Alt	rs121912916(A;A)
Reference	Rs121912916(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.189870933G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018755.29,