rs113871730

Orientation

plus

Stabilized

plus

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

Make rs113871730(A;A)

Reference

GRCh38 38.1/142

Chromosome

2

Position

188991697

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs113871730
dbSNP (classic)	rs113871730
ClinGen	rs113871730
ebi	rs113871730
HLI	rs113871730
Exac	rs113871730
Gnomad	rs113871730
Varsome	rs113871730
LitVar	rs113871730
Map	rs113871730
PheGenI	rs113871730
Biobank	rs113871730
1000 genomes	rs113871730
hgdp	rs113871730
ensembl	rs113871730
geneview	rs113871730
scholar	rs113871730
google	rs113871730
pharmgkb	rs113871730
gwascentral	rs113871730
openSNP	rs113871730
23andMe	rs113871730
SNPshot	rs113871730
SNPdbe	rs113871730
MSV3d	rs113871730
GWAS Ctlg	rs113871730

Max Magnitude

6.5

ClinVar
Risk	rs113871730(A;A)
Alt	rs113871730(A;A)
Reference	Rs113871730(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.189856423G>A
CLNSRC	Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC	RCV000087602.1,