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rs121909680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909680(C;T)
Make rs121909680(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position85553267
GeneGGCX
is asnp
is mentioned by
dbSNPrs121909680
ebirs121909680
HLIrs121909680
Exacrs121909680
Varsomers121909680
Maprs121909680
PheGenIrs121909680
hapmaprs121909680
1000 genomesrs121909680
hgdprs121909680
ensemblrs121909680
gopubmedrs121909680
geneviewrs121909680
scholarrs121909680
googlers121909680
pharmgkbrs121909680
gwascentralrs121909680
openSNPrs121909680
23andMers121909680
23andMe allrs121909680
SNP Nexus

SNPshotrs121909680
SNPdbers121909680
MSV3drs121909680
GWAS Ctlgrs121909680
Max Magnitude0
OMIM137167
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909680(T;T)
Alt rs121909680(T;T)
Reference rs121909680(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.85780390G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017586.29,