rs769752636

Orientation

plus

Stabilized

plus

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

Make rs769752636(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

134730386

Gene

COL5A1

is a	snp
is	mentioned by
dbSNP	rs769752636
dbSNP (classic)	rs769752636
ClinGen	rs769752636
ebi	rs769752636
HLI	rs769752636
Exac	rs769752636
Gnomad	rs769752636
Varsome	rs769752636
LitVar	rs769752636
Map	rs769752636
PheGenI	rs769752636
Biobank	rs769752636
1000 genomes	rs769752636
hgdp	rs769752636
ensembl	rs769752636
geneview	rs769752636
scholar	rs769752636
google	rs769752636
pharmgkb	rs769752636
gwascentral	rs769752636
openSNP	rs769752636
23andMe	rs769752636
SNPshot	rs769752636
SNPdbe	rs769752636
MSV3d	rs769752636
GWAS Ctlg	rs769752636

Max Magnitude

5.5

ClinVar
Risk	rs769752636(A;A) rs769752636(T;T)
Alt	rs769752636(A;A) rs769752636(T;T)
Reference	Rs769752636(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.137622232G>T
CLNSRC
CLNACC	RCV000467841.1,