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rs371856018

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 6.1 Charcot-Marie-Tooth Disease, type 1
(T;T) 0 common in clinvar


Make rs371856018(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position161307376
GeneMPZ
is asnp
is mentioned by
dbSNPrs371856018
dbSNP (classic)rs371856018
ClinGenrs371856018
ebirs371856018
HLIrs371856018
Exacrs371856018
Gnomadrs371856018
Varsomers371856018
LitVarrs371856018
Maprs371856018
PheGenIrs371856018
Biobankrs371856018
1000 genomesrs371856018
hgdprs371856018
ensemblrs371856018
geneviewrs371856018
scholarrs371856018
googlers371856018
pharmgkbrs371856018
gwascentralrs371856018
openSNPrs371856018
23andMers371856018
SNPshotrs371856018
SNPdbers371856018
MSV3drs371856018
GWAS Ctlgrs371856018
Max Magnitude6.1
ClinVar
Risk rs371856018(C;C) rs371856018(G;G)
Alt rs371856018(C;C) rs371856018(G;G)
Reference Rs371856018(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease, type I not provided
Reversed 0
HGVS NC_000001.10:g.161277166T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000201089.1, RCV000206430.2, RCV000236108.1,