Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909684

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909684(C;T)
Make rs121909684(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position85553488
GeneGGCX
is asnp
is mentioned by
dbSNPrs121909684
ClinGenrs121909684
ebirs121909684
HLIrs121909684
Exacrs121909684
Varsomers121909684
Maprs121909684
PheGenIrs121909684
hapmaprs121909684
1000 genomesrs121909684
hgdprs121909684
ensemblrs121909684
gopubmedrs121909684
geneviewrs121909684
scholarrs121909684
googlers121909684
pharmgkbrs121909684
gwascentralrs121909684
openSNPrs121909684
23andMers121909684
23andMe allrs121909684
SNP Nexus

SNPshotrs121909684
SNPdbers121909684
MSV3drs121909684
GWAS Ctlgrs121909684
Max Magnitude0
OMIM137167
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909684(T;T)
Alt rs121909684(T;T)
Reference Rs121909684(C;C)
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.85780611G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017580.29,