rs121912922

Orientation

plus

Stabilized

plus

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

Make rs121912922(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189004312

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912922
dbSNP (classic)	rs121912922
ClinGen	rs121912922
ebi	rs121912922
HLI	rs121912922
Exac	rs121912922
Gnomad	rs121912922
Varsome	rs121912922
LitVar	rs121912922
Map	rs121912922
PheGenI	rs121912922
Biobank	rs121912922
1000 genomes	rs121912922
hgdp	rs121912922
ensembl	rs121912922
geneview	rs121912922
scholar	rs121912922
google	rs121912922
pharmgkb	rs121912922
gwascentral	rs121912922
openSNP	rs121912922
23andMe	rs121912922
SNPshot	rs121912922
SNPdbe	rs121912922
MSV3d	rs121912922
GWAS Ctlg	rs121912922

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0023
Related	also

ClinVar
Risk	rs121912922(T;T)
Alt	rs121912922(T;T)
Reference	Rs121912922(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.189869038G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018764.28,