rs113485686

Orientation

plus

Stabilized

plus

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

Make rs113485686(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189001554

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs113485686
dbSNP (classic)	rs113485686
ClinGen	rs113485686
ebi	rs113485686
HLI	rs113485686
Exac	rs113485686
Gnomad	rs113485686
Varsome	rs113485686
LitVar	rs113485686
Map	rs113485686
PheGenI	rs113485686
Biobank	rs113485686
1000 genomes	rs113485686
hgdp	rs113485686
ensembl	rs113485686
geneview	rs113485686
scholar	rs113485686
google	rs113485686
pharmgkb	rs113485686
gwascentral	rs113485686
openSNP	rs113485686
23andMe	rs113485686
SNPshot	rs113485686
SNPdbe	rs113485686
MSV3d	rs113485686
GWAS Ctlg	rs113485686

Max Magnitude

6.5

OMIM	120180
Desc
Variant	0002
Related	also

ClinVar
Risk	rs113485686(A;A)
Alt	rs113485686(A;A)
Reference	Rs113485686(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4 variant Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189866280G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018740.27, RCV000087507.1,