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rs121913595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913595(C;T)
Make rs121913595(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306785
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913595
ebirs121913595
HLIrs121913595
Exacrs121913595
Varsomers121913595
Maprs121913595
PheGenIrs121913595
hapmaprs121913595
1000 genomesrs121913595
hgdprs121913595
ensemblrs121913595
gopubmedrs121913595
geneviewrs121913595
scholarrs121913595
googlers121913595
pharmgkbrs121913595
gwascentralrs121913595
openSNPrs121913595
23andMers121913595
23andMe allrs121913595
SNP Nexus

SNPshotrs121913595
SNPdbers121913595
MSV3drs121913595
GWAS Ctlgrs121913595
Merged fromRs121913607
Max Magnitude0
OMIM159440
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121913595(A,T;A,T)
Alt rs121913595(A,T;A,T)
Reference rs121913595(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Neuropathy
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease Neuropathy, congenital hypomyelinating, autosomal dominant
Reversed 1
HGVS NC_000001.10:g.161276575G>A; NC_000001.10:g.161276575G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015244.25, RCV000015245.23, RCV000192248.1, RCV000015260.22,