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rs121909677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909677(C;C)
Make rs121909677(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position85553491
GeneGGCX
is asnp
is mentioned by
dbSNPrs121909677
ebirs121909677
HLIrs121909677
Exacrs121909677
Varsomers121909677
Maprs121909677
PheGenIrs121909677
hapmaprs121909677
1000 genomesrs121909677
hgdprs121909677
ensemblrs121909677
gopubmedrs121909677
geneviewrs121909677
scholarrs121909677
googlers121909677
pharmgkbrs121909677
gwascentralrs121909677
openSNPrs121909677
23andMers121909677
23andMe allrs121909677
SNP Nexus

SNPshotrs121909677
SNPdbers121909677
MSV3drs121909677
GWAS Ctlgrs121909677
Max Magnitude0
OMIM137167
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909677(C;C)
Alt rs121909677(C;C)
Reference rs121909677(T;T)
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.85780614A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017583.28,