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rs121909679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909679(C;C)
Make rs121909679(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position85551943
GeneGGCX
is asnp
is mentioned by
dbSNPrs121909679
ebirs121909679
HLIrs121909679
Exacrs121909679
Varsomers121909679
Maprs121909679
PheGenIrs121909679
hapmaprs121909679
1000 genomesrs121909679
hgdprs121909679
ensemblrs121909679
gopubmedrs121909679
geneviewrs121909679
scholarrs121909679
googlers121909679
pharmgkbrs121909679
gwascentralrs121909679
openSNPrs121909679
23andMers121909679
23andMe allrs121909679
SNP Nexus

SNPshotrs121909679
SNPdbers121909679
MSV3drs121909679
GWAS Ctlgrs121909679
Max Magnitude0
OMIM137167
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909679(C;C)
Alt rs121909679(C;C)
Reference rs121909679(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.85779066C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017585.29,