rs80338764

Orientation

plus

Stabilized

plus

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

Make rs80338764(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

134824817

Gene	COL5A1, LOC101448202

is a	snp
is	mentioned by
dbSNP	rs80338764
dbSNP (classic)	rs80338764
ClinGen	rs80338764
ebi	rs80338764
HLI	rs80338764
Exac	rs80338764
Gnomad	rs80338764
Varsome	rs80338764
LitVar	rs80338764
Map	rs80338764
PheGenI	rs80338764
Biobank	rs80338764
1000 genomes	rs80338764
hgdp	rs80338764
ensembl	rs80338764
geneview	rs80338764
scholar	rs80338764
google	rs80338764
pharmgkb	rs80338764
gwascentral	rs80338764
openSNP	rs80338764
23andMe	rs80338764
SNPshot	rs80338764
SNPdbe	rs80338764
MSV3d	rs80338764
GWAS Ctlg	rs80338764

Max Magnitude

5.5

OMIM	120215
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80338764(C;C)
Alt	rs80338764(C;C)
Reference	Rs80338764(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.137716663G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032107.3,