rs786200923

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GAGT)	5.5	Ehlers-Danlos Syndrome (EDS) classic type
(GTGA;GTGA)	0	common in clinvar

Make rs786200923(-;-)

Make rs786200923(GAGT;GAGT)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134835207

Gene	COL5A1, LOC101448202

is a	snp
is	mentioned by
dbSNP	rs786200923
dbSNP (classic)	rs786200923
ClinGen	rs786200923
ebi	rs786200923
HLI	rs786200923
Exac	rs786200923
Gnomad	rs786200923
Varsome	rs786200923
LitVar	rs786200923
Map	rs786200923
PheGenI	rs786200923
Biobank	rs786200923
1000 genomes	rs786200923
hgdp	rs786200923
ensembl	rs786200923
geneview	rs786200923
scholar	rs786200923
google	rs786200923
pharmgkb	rs786200923
gwascentral	rs786200923
openSNP	rs786200923
23andMe	rs786200923
SNPshot	rs786200923
SNPdbe	rs786200923
MSV3d	rs786200923
GWAS Ctlg	rs786200923

Max Magnitude

5.5

ClinVar
Risk	rs786200923(-;-)
Alt	rs786200923(-;-)
Reference	Rs786200923(GTGA;GTGA)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137727053_137727056delGAGT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018724.28,