rs387906557

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs387906557(C;C)

Make rs387906557(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188985737

Gene	COL3A1, LOC105373791

is a	snp
is	mentioned by
dbSNP	rs387906557
dbSNP (classic)	rs387906557
ClinGen	rs387906557
ebi	rs387906557
HLI	rs387906557
Exac	rs387906557
Gnomad	rs387906557
Varsome	rs387906557
LitVar	rs387906557
Map	rs387906557
PheGenI	rs387906557
Biobank	rs387906557
1000 genomes	rs387906557
hgdp	rs387906557
ensembl	rs387906557
geneview	rs387906557
scholar	rs387906557
google	rs387906557
pharmgkb	rs387906557
gwascentral	rs387906557
openSNP	rs387906557
23andMe	rs387906557
SNPshot	rs387906557
SNPdbe	rs387906557
MSV3d	rs387906557
GWAS Ctlg	rs387906557

Max Magnitude

0

ClinVar
Risk	rs387906557(C;C)
Alt	rs387906557(C;C)
Reference	Rs387906557(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.189850463G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018759.29,