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rs121913586

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913586(C;C)
Make rs121913586(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306414
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913586
ebirs121913586
HLIrs121913586
Exacrs121913586
Varsomers121913586
Maprs121913586
PheGenIrs121913586
hapmaprs121913586
1000 genomesrs121913586
hgdprs121913586
ensemblrs121913586
gopubmedrs121913586
geneviewrs121913586
scholarrs121913586
googlers121913586
pharmgkbrs121913586
gwascentralrs121913586
openSNPrs121913586
23andMers121913586
23andMe allrs121913586
SNP Nexus

SNPshotrs121913586
SNPdbers121913586
MSV3drs121913586
GWAS Ctlgrs121913586
Max Magnitude0
OMIM159440
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121913586(A,C;A,C)
Alt rs121913586(A,C;A,C)
Reference rs121913586(G;G)
Significance Pathogenic
Disease Dejerine-Sottas syndrome Dejerine-Sottas disease Charcot-Marie-Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease Congenital hypomyelinating neuropathy Roussy-Lévy syndrome
Variation info
Gene MPZ
CLNDBN Dejerine-Sottas syndrome, autosomal dominant Dejerine-Sottas disease Charcot-Marie-Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease, demyelinating, type 1b Congenital hypomyelinating neuropathy Roussy-Lévy syndrome
Reversed 1
HGVS NC_000001.10:g.161276204C>G; NC_000001.10:g.161276204C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015233.25, RCV000032123.1, RCV000198029.1, RCV000194294.1,