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rs121909678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909678(A;A)
Make rs121909678(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position85551548
GeneGGCX
is asnp
is mentioned by
dbSNPrs121909678
ebirs121909678
HLIrs121909678
Exacrs121909678
Varsomers121909678
Maprs121909678
PheGenIrs121909678
hapmaprs121909678
1000 genomesrs121909678
hgdprs121909678
ensemblrs121909678
gopubmedrs121909678
geneviewrs121909678
scholarrs121909678
googlers121909678
pharmgkbrs121909678
gwascentralrs121909678
openSNPrs121909678
23andMers121909678
23andMe allrs121909678
SNP Nexus

SNPshotrs121909678
SNPdbers121909678
MSV3drs121909678
GWAS Ctlgrs121909678
Max Magnitude0
OMIM137167
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909678(A;A)
Alt rs121909678(A;A)
Reference rs121909678(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.85778671C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017584.28,