rs121909683

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121909683(A;A)

Make rs121909683(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

85554269

Gene

GGCX

is a	snp
is	mentioned by
dbSNP	rs121909683
dbSNP (classic)	rs121909683
ClinGen	rs121909683
ebi	rs121909683
HLI	rs121909683
Exac	rs121909683
Gnomad	rs121909683
Varsome	rs121909683
LitVar	rs121909683
Map	rs121909683
PheGenI	rs121909683
Biobank	rs121909683
1000 genomes	rs121909683
hgdp	rs121909683
ensembl	rs121909683
geneview	rs121909683
scholar	rs121909683
google	rs121909683
pharmgkb	rs121909683
gwascentral	rs121909683
openSNP	rs121909683
23andMe	rs121909683
SNPshot	rs121909683
SNPdbe	rs121909683
MSV3d	rs121909683
GWAS Ctlg	rs121909683

Max Magnitude

0

OMIM	137167
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121909683(A;A)
Alt	rs121909683(A;A)
Reference	Rs121909683(G;G)
Significance	Pathogenic
Disease	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Variation	info
Gene	GGCX
CLNDBN	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Reversed	1
HGVS	NC_000002.11:g.85781392C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017590.29,