rs397509369

Orientation

plus

Stabilized

plus

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

Make rs397509369(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189002343

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs397509369
dbSNP (classic)	rs397509369
ClinGen	rs397509369
ebi	rs397509369
HLI	rs397509369
Exac	rs397509369
Gnomad	rs397509369
Varsome	rs397509369
LitVar	rs397509369
Map	rs397509369
PheGenI	rs397509369
Biobank	rs397509369
1000 genomes	rs397509369
hgdp	rs397509369
ensembl	rs397509369
geneview	rs397509369
scholar	rs397509369
google	rs397509369
pharmgkb	rs397509369
gwascentral	rs397509369
openSNP	rs397509369
23andMe	rs397509369
SNPshot	rs397509369
SNPdbe	rs397509369
MSV3d	rs397509369
GWAS Ctlg	rs397509369

Max Magnitude

6.5

ClinVar
Risk	rs397509369(A;A)
Alt	rs397509369(A;A)
Reference	Rs397509369(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.189867069G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018739.23,