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rs121909682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909682(A;A)
Make rs121909682(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position85552428
GeneGGCX
is asnp
is mentioned by
dbSNPrs121909682
ebirs121909682
HLIrs121909682
Exacrs121909682
Varsomers121909682
Maprs121909682
PheGenIrs121909682
hapmaprs121909682
1000 genomesrs121909682
hgdprs121909682
ensemblrs121909682
gopubmedrs121909682
geneviewrs121909682
scholarrs121909682
googlers121909682
pharmgkbrs121909682
gwascentralrs121909682
openSNPrs121909682
23andMers121909682
23andMe allrs121909682
SNP Nexus

SNPshotrs121909682
SNPdbers121909682
MSV3drs121909682
GWAS Ctlgrs121909682
Max Magnitude0
OMIM137167
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909682(A;A)
Alt rs121909682(A;A)
Reference rs121909682(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.85779551C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017589.29,