rs121912918

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 rs121912918(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189008135

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912918
dbSNP (classic)	rs121912918
ClinGen	rs121912918
ebi	rs121912918
HLI	rs121912918
Exac	rs121912918
Gnomad	rs121912918
Varsome	rs121912918
LitVar	rs121912918
Map	rs121912918
PheGenI	rs121912918
Biobank	rs121912918
1000 genomes	rs121912918
hgdp	rs121912918
ensembl	rs121912918
geneview	rs121912918
scholar	rs121912918
google	rs121912918
pharmgkb	rs121912918
gwascentral	rs121912918
openSNP	rs121912918
23andMe	rs121912918
SNPshot	rs121912918
SNPdbe	rs121912918
MSV3d	rs121912918
GWAS Ctlg	rs121912918

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121912918(A;A) rs121912918(T;T)
Alt	rs121912918(A;A) rs121912918(T;T)
Reference	Rs121912918(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.189872861G>A; NC_000002.11:g.189872861G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018757.28, RCV000087613.1,