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rs121913589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913589(C;C)
Make rs121913589(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306863
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913589
ebirs121913589
HLIrs121913589
Exacrs121913589
Varsomers121913589
Maprs121913589
PheGenIrs121913589
hapmaprs121913589
1000 genomesrs121913589
hgdprs121913589
ensemblrs121913589
gopubmedrs121913589
geneviewrs121913589
scholarrs121913589
googlers121913589
pharmgkbrs121913589
gwascentralrs121913589
openSNPrs121913589
23andMers121913589
23andMe allrs121913589
SNP Nexus

SNPshotrs121913589
SNPdbers121913589
MSV3drs121913589
GWAS Ctlgrs121913589
Merged fromRs121913591
Max Magnitude0
OMIM159440
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121913589(A,C;A,C)
Alt rs121913589(A,C;A,C)
Reference rs121913589(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease, type I
Reversed 1
HGVS NC_000001.10:g.161276653C>G; NC_000001.10:g.161276653C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015237.27, RCV000015239.23, RCV000196172.1,