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rs121913591

From SNPedia

Merged intors121913589
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913591(A;A)
Make rs121913591(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306863
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913591
ebirs121913591
HLIrs121913591
Exacrs121913591
Varsomers121913591
Maprs121913591
PheGenIrs121913591
hapmaprs121913591
1000 genomesrs121913591
hgdprs121913591
ensemblrs121913591
gopubmedrs121913591
geneviewrs121913591
scholarrs121913591
googlers121913591
pharmgkbrs121913591
gwascentralrs121913591
openSNPrs121913591
23andMers121913591
23andMe allrs121913591
SNP Nexus

SNPshotrs121913591
SNPdbers121913591
MSV3drs121913591
GWAS Ctlgrs121913591
StatusMerged into rs121913589
Max Magnitude0
OMIM159440
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121913591(A;A)
Alt rs121913591(A;A)
Reference rs121913591(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, type IB
Reversed 1
HGVS NC_000001.10:g.161276653C>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000035498.1,