rs121912913

Orientation

plus

Stabilized

plus

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

Make rs121912913(A;A)

Make rs121912913(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189004302

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912913
dbSNP (classic)	rs121912913
ClinGen	rs121912913
ebi	rs121912913
HLI	rs121912913
Exac	rs121912913
Gnomad	rs121912913
Varsome	rs121912913
LitVar	rs121912913
Map	rs121912913
PheGenI	rs121912913
Biobank	rs121912913
1000 genomes	rs121912913
hgdp	rs121912913
ensembl	rs121912913
geneview	rs121912913
scholar	rs121912913
google	rs121912913
pharmgkb	rs121912913
gwascentral	rs121912913
openSNP	rs121912913
23andMe	rs121912913
SNPshot	rs121912913
SNPdbe	rs121912913
MSV3d	rs121912913
GWAS Ctlg	rs121912913

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121912913(A;A) rs121912913(T;T)
Alt	rs121912913(A;A) rs121912913(T;T)
Reference	Rs121912913(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.189869028G>T
CLNSRC	ClinVar
CLNACC	RCV000087396.1,