rs121912926

Orientation

plus

Stabilized

plus

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

Make rs121912926(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188988099

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912926
dbSNP (classic)	rs121912926
ClinGen	rs121912926
ebi	rs121912926
HLI	rs121912926
Exac	rs121912926
Gnomad	rs121912926
Varsome	rs121912926
LitVar	rs121912926
Map	rs121912926
PheGenI	rs121912926
Biobank	rs121912926
1000 genomes	rs121912926
hgdp	rs121912926
ensembl	rs121912926
geneview	rs121912926
scholar	rs121912926
google	rs121912926
pharmgkb	rs121912926
gwascentral	rs121912926
openSNP	rs121912926
23andMe	rs121912926
SNPshot	rs121912926
SNPdbe	rs121912926
MSV3d	rs121912926
GWAS Ctlg	rs121912926

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0027
Related	also

ClinVar
Risk	rs121912926(A;A) rs121912926(C;C) rs121912926(T;T)
Alt	rs121912926(A;A) rs121912926(C;C) rs121912926(T;T)
Reference	Rs121912926(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome not provided
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4 not provided
Reversed	0
HGVS	NC_000002.11:g.189852825G>A; NC_000002.11:g.189852825G>C; NC_000002.11:g.189852825G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018768.29, RCV000479050.1, RCV000087428.1, RCV000087408.1,