rs397509372

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 rs397509372(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

188996501

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs397509372
dbSNP (classic)	rs397509372
ClinGen	rs397509372
ebi	rs397509372
HLI	rs397509372
Exac	rs397509372
Gnomad	rs397509372
Varsome	rs397509372
LitVar	rs397509372
Map	rs397509372
PheGenI	rs397509372
Biobank	rs397509372
1000 genomes	rs397509372
hgdp	rs397509372
ensembl	rs397509372
geneview	rs397509372
scholar	rs397509372
google	rs397509372
pharmgkb	rs397509372
gwascentral	rs397509372
openSNP	rs397509372
23andMe	rs397509372
SNPshot	rs397509372
SNPdbe	rs397509372
MSV3d	rs397509372
GWAS Ctlg	rs397509372

Max Magnitude

6.5

ClinVar
Risk	rs397509372(A;A) rs397509372(T;T)
Alt	rs397509372(A;A) rs397509372(T;T)
Reference	Rs397509372(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.189861227G>A; NC_000002.11:g.189861227G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087446.1, RCV000018752.29,