rs786200922

Orientation

plus

Stabilized

plus

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

Make rs786200922(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

134814039

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs786200922
dbSNP (classic)	rs786200922
ClinGen	rs786200922
ebi	rs786200922
HLI	rs786200922
Exac	rs786200922
Gnomad	rs786200922
Varsome	rs786200922
LitVar	rs786200922
Map	rs786200922
PheGenI	rs786200922
Biobank	rs786200922
1000 genomes	rs786200922
hgdp	rs786200922
ensembl	rs786200922
geneview	rs786200922
scholar	rs786200922
google	rs786200922
pharmgkb	rs786200922
gwascentral	rs786200922
openSNP	rs786200922
23andMe	rs786200922
SNPshot	rs786200922
SNPdbe	rs786200922
MSV3d	rs786200922
GWAS Ctlg	rs786200922

Max Magnitude

5.5

ClinVar
Risk	rs786200922(T;T)
Alt	rs786200922(T;T)
Reference	Rs786200922(G;G)
Significance	Pathogenic
Disease	Ehlers-Danlos syndrome
Variation	info
Gene	COL5A1
CLNDBN	Ehlers-Danlos syndrome, classic type
Reversed	0
HGVS	NC_000009.11:g.137705885G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018723.28,