rs397509374

Orientation

plus

Stabilized

plus

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

Make rs397509374(-;-)

Reference

GRCh38 38.1/141

Chromosome

2

Position

189002999

Gene

COL3A1

is a	snp
is	mentioned by
dbSNP	rs397509374
dbSNP (classic)	rs397509374
ClinGen	rs397509374
ebi	rs397509374
HLI	rs397509374
Exac	rs397509374
Gnomad	rs397509374
Varsome	rs397509374
LitVar	rs397509374
Map	rs397509374
PheGenI	rs397509374
Biobank	rs397509374
1000 genomes	rs397509374
hgdp	rs397509374
ensembl	rs397509374
geneview	rs397509374
scholar	rs397509374
google	rs397509374
pharmgkb	rs397509374
gwascentral	rs397509374
openSNP	rs397509374
23andMe	rs397509374
SNPshot	rs397509374
SNPdbe	rs397509374
MSV3d	rs397509374
GWAS Ctlg	rs397509374

Max Magnitude

6.5

aka c.2490_2516del27 (p.Glu832_Gly840del)

ClinVar
Risk	rs397509374(-;-)
Alt	rs397509374(-;-)
Reference	Rs397509374(CTCCGGGTGAGAAAGGTGAAGGAGGCC;CTCCGGGTGAGAAAGGTGAAGGAGGCC)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL3A1
CLNDBN	Ehlers-Danlos syndrome, type 4
Reversed	0
HGVS	NC_000002.11:g.189867725_189867751del27
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018754.27,