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rs121909683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909683(A;A)
Make rs121909683(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position85554269
GeneGGCX
is asnp
is mentioned by
dbSNPrs121909683
ebirs121909683
HLIrs121909683
Exacrs121909683
Varsomers121909683
Maprs121909683
PheGenIrs121909683
hapmaprs121909683
1000 genomesrs121909683
hgdprs121909683
ensemblrs121909683
gopubmedrs121909683
geneviewrs121909683
scholarrs121909683
googlers121909683
pharmgkbrs121909683
gwascentralrs121909683
openSNPrs121909683
23andMers121909683
23andMe allrs121909683
SNP Nexus

SNPshotrs121909683
SNPdbers121909683
MSV3drs121909683
GWAS Ctlgrs121909683
Max Magnitude0
OMIM137167
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909683(A;A)
Alt rs121909683(A;A)
Reference rs121909683(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.85781392C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017590.29,