rs121909678

Orientation

minus

Stabilized

minus

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

Make rs121909678(A;A)

Make rs121909678(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

85551548

Gene

GGCX

is a	snp
is	mentioned by
dbSNP	rs121909678
dbSNP (classic)	rs121909678
ClinGen	rs121909678
ebi	rs121909678
HLI	rs121909678
Exac	rs121909678
Gnomad	rs121909678
Varsome	rs121909678
LitVar	rs121909678
Map	rs121909678
PheGenI	rs121909678
Biobank	rs121909678
1000 genomes	rs121909678
hgdp	rs121909678
ensembl	rs121909678
geneview	rs121909678
scholar	rs121909678
google	rs121909678
pharmgkb	rs121909678
gwascentral	rs121909678
openSNP	rs121909678
23andMe	rs121909678
SNPshot	rs121909678
SNPdbe	rs121909678
MSV3d	rs121909678
GWAS Ctlg	rs121909678

Max Magnitude

0

OMIM	137167
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909678(A;A)
Alt	rs121909678(A;A)
Reference	Rs121909678(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.85778671C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017584.28,