rs121912932

Orientation

plus

Stabilized

plus

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

Make rs121912932(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

134820135

Gene	COL5A1, LOC101448202

is a	snp
is	mentioned by
dbSNP	rs121912932
dbSNP (classic)	rs121912932
ClinGen	rs121912932
ebi	rs121912932
HLI	rs121912932
Exac	rs121912932
Gnomad	rs121912932
Varsome	rs121912932
LitVar	rs121912932
Map	rs121912932
PheGenI	rs121912932
Biobank	rs121912932
1000 genomes	rs121912932
hgdp	rs121912932
ensembl	rs121912932
geneview	rs121912932
scholar	rs121912932
google	rs121912932
pharmgkb	rs121912932
gwascentral	rs121912932
openSNP	rs121912932
23andMe	rs121912932
SNPshot	rs121912932
SNPdbe	rs121912932
MSV3d	rs121912932
GWAS Ctlg	rs121912932

Max Magnitude

5.5

OMIM	120215
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912932(A;A)
Alt	rs121912932(A;A)
Reference	Rs121912932(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.137711981G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018729.28,