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rs121913585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913585(C;G)
Make rs121913585(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307304
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913585
ebirs121913585
HLIrs121913585
Exacrs121913585
Varsomers121913585
Maprs121913585
PheGenIrs121913585
hapmaprs121913585
1000 genomesrs121913585
hgdprs121913585
ensemblrs121913585
gopubmedrs121913585
geneviewrs121913585
scholarrs121913585
googlers121913585
pharmgkbrs121913585
gwascentralrs121913585
openSNPrs121913585
23andMers121913585
23andMe allrs121913585
SNP Nexus

SNPshotrs121913585
SNPdbers121913585
MSV3drs121913585
GWAS Ctlgrs121913585
Merged fromRs121913592
Max Magnitude0
OMIM159440
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913585(G,T;G,T)
Alt rs121913585(G,T;G,T)
Reference rs121913585(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Dejerine-Sottas syndrome
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1b Dejerine-Sottas syndrome, autosomal dominant
Reversed 1
HGVS NC_000001.10:g.161277094G>A; NC_000001.10:g.161277094G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015240.26, RCV000015232.21,