rs786205103

Orientation

minus

Stabilized

minus

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

Make rs786205103(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

189062914

Gene

COL5A2

is a	snp
is	mentioned by
dbSNP	rs786205103
dbSNP (classic)	rs786205103
ClinGen	rs786205103
ebi	rs786205103
HLI	rs786205103
Exac	rs786205103
Gnomad	rs786205103
Varsome	rs786205103
LitVar	rs786205103
Map	rs786205103
PheGenI	rs786205103
Biobank	rs786205103
1000 genomes	rs786205103
hgdp	rs786205103
ensembl	rs786205103
geneview	rs786205103
scholar	rs786205103
google	rs786205103
pharmgkb	rs786205103
gwascentral	rs786205103
openSNP	rs786205103
23andMe	rs786205103
SNPshot	rs786205103
SNPdbe	rs786205103
MSV3d	rs786205103
GWAS Ctlg	rs786205103

Max Magnitude

5.5

ClinVar
Risk	rs786205103(-;-)
Alt	rs786205103(-;-)
Reference	Rs786205103(AGGGAGC;AGGGAGC)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A2
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	1
HGVS	NC_000002.11:g.189927640_189927646delGCTCCCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018736.28,