rs397509373

Orientation

plus

Stabilized

plus

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

Make rs397509373(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189004365

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs397509373
dbSNP (classic)	rs397509373
ClinGen	rs397509373
ebi	rs397509373
HLI	rs397509373
Exac	rs397509373
Gnomad	rs397509373
Varsome	rs397509373
LitVar	rs397509373
Map	rs397509373
PheGenI	rs397509373
Biobank	rs397509373
1000 genomes	rs397509373
hgdp	rs397509373
ensembl	rs397509373
geneview	rs397509373
scholar	rs397509373
google	rs397509373
pharmgkb	rs397509373
gwascentral	rs397509373
openSNP	rs397509373
23andMe	rs397509373
SNPshot	rs397509373
SNPdbe	rs397509373
MSV3d	rs397509373
GWAS Ctlg	rs397509373

Max Magnitude

6.5

ClinVar
Risk	rs397509373(A;A)
Alt	rs397509373(A;A)
Reference	Rs397509373(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.189869091G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018753.28,