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rs121909681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909681(C;T)
Make rs121909681(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position85552429
GeneGGCX
is asnp
is mentioned by
dbSNPrs121909681
ebirs121909681
HLIrs121909681
Exacrs121909681
Varsomers121909681
Maprs121909681
PheGenIrs121909681
hapmaprs121909681
1000 genomesrs121909681
hgdprs121909681
ensemblrs121909681
gopubmedrs121909681
geneviewrs121909681
scholarrs121909681
googlers121909681
pharmgkbrs121909681
gwascentralrs121909681
openSNPrs121909681
23andMers121909681
23andMe allrs121909681
SNP Nexus

SNPshotrs121909681
SNPdbers121909681
MSV3drs121909681
GWAS Ctlgrs121909681
Max Magnitude0
OMIM137167
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909681(G,T;G,T)
Alt rs121909681(G,T;G,T)
Reference rs121909681(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.85779552G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017588.29,