rs121912927

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 rs121912927(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188990308

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs121912927
dbSNP (classic)	rs121912927
ClinGen	rs121912927
ebi	rs121912927
HLI	rs121912927
Exac	rs121912927
Gnomad	rs121912927
Varsome	rs121912927
LitVar	rs121912927
Map	rs121912927
PheGenI	rs121912927
Biobank	rs121912927
1000 genomes	rs121912927
hgdp	rs121912927
ensembl	rs121912927
geneview	rs121912927
scholar	rs121912927
google	rs121912927
pharmgkb	rs121912927
gwascentral	rs121912927
openSNP	rs121912927
23andMe	rs121912927
SNPshot	rs121912927
SNPdbe	rs121912927
MSV3d	rs121912927
GWAS Ctlg	rs121912927

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0028
Related	also

ClinVar
Risk	rs121912927(A;A) rs121912927(T;T)
Alt	rs121912927(A;A) rs121912927(T;T)
Reference	Rs121912927(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.189855034G>A; NC_000002.11:g.189855034G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018748.28, RCV000087533.1,