rs397509376

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 rs397509376(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188997394

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs397509376
dbSNP (classic)	rs397509376
ClinGen	rs397509376
ebi	rs397509376
HLI	rs397509376
Exac	rs397509376
Gnomad	rs397509376
Varsome	rs397509376
LitVar	rs397509376
Map	rs397509376
PheGenI	rs397509376
Biobank	rs397509376
1000 genomes	rs397509376
hgdp	rs397509376
ensembl	rs397509376
geneview	rs397509376
scholar	rs397509376
google	rs397509376
pharmgkb	rs397509376
gwascentral	rs397509376
openSNP	rs397509376
23andMe	rs397509376
SNPshot	rs397509376
SNPdbe	rs397509376
MSV3d	rs397509376
GWAS Ctlg	rs397509376

Max Magnitude

6.5

ClinVar
Risk	rs397509376(A;A) rs397509376(T;T)
Alt	rs397509376(A;A) rs397509376(T;T)
Reference	Rs397509376(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.189862120G>A; NC_000002.11:g.189862120G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018762.28, RCV000087724.1,