rs121912914

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;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 rs121912914(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189006400

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912914
dbSNP (classic)	rs121912914
ClinGen	rs121912914
ebi	rs121912914
HLI	rs121912914
Exac	rs121912914
Gnomad	rs121912914
Varsome	rs121912914
LitVar	rs121912914
Map	rs121912914
PheGenI	rs121912914
Biobank	rs121912914
1000 genomes	rs121912914
hgdp	rs121912914
ensembl	rs121912914
geneview	rs121912914
scholar	rs121912914
google	rs121912914
pharmgkb	rs121912914
gwascentral	rs121912914
openSNP	rs121912914
23andMe	rs121912914
SNPshot	rs121912914
SNPdbe	rs121912914
MSV3d	rs121912914
GWAS Ctlg	rs121912914

Merged from

Rs121912929

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912914(A;A) rs121912914(T;T)
Alt	rs121912914(A;A) rs121912914(T;T)
Reference	Rs121912914(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.189871126G>A; NC_000002.11:g.189871126G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018741.24, RCV000018771.25,