rs121909682

Orientation

minus

Stabilized

minus

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

Make rs121909682(A;A)

Make rs121909682(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

85552428

Gene

GGCX

is a	snp
is	mentioned by
dbSNP	rs121909682
dbSNP (classic)	rs121909682
ClinGen	rs121909682
ebi	rs121909682
HLI	rs121909682
Exac	rs121909682
Gnomad	rs121909682
Varsome	rs121909682
LitVar	rs121909682
Map	rs121909682
PheGenI	rs121909682
Biobank	rs121909682
1000 genomes	rs121909682
hgdp	rs121909682
ensembl	rs121909682
geneview	rs121909682
scholar	rs121909682
google	rs121909682
pharmgkb	rs121909682
gwascentral	rs121909682
openSNP	rs121909682
23andMe	rs121909682
SNPshot	rs121909682
SNPdbe	rs121909682
MSV3d	rs121909682
GWAS Ctlg	rs121909682

Max Magnitude

0

OMIM	137167
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121909682(A;A)
Alt	rs121909682(A;A)
Reference	Rs121909682(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.85779551C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017589.29,