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rs754068936

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs754068936(G;T)
Make rs754068936(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position161306462
GeneMPZ
is asnp
is mentioned by
dbSNPrs754068936
ebirs754068936
HLIrs754068936
Exacrs754068936
Varsomers754068936
Maprs754068936
PheGenIrs754068936
hapmaprs754068936
1000 genomesrs754068936
hgdprs754068936
ensemblrs754068936
gopubmedrs754068936
geneviewrs754068936
scholarrs754068936
googlers754068936
pharmgkbrs754068936
gwascentralrs754068936
openSNPrs754068936
23andMers754068936
23andMe allrs754068936
SNP Nexus

SNPshotrs754068936
SNPdbers754068936
MSV3drs754068936
GWAS Ctlgrs754068936
Max Magnitude0
ClinVar
Risk rs754068936(T;T)
Alt rs754068936(T;T)
Reference rs754068936(G;G)
Significance Probable-Pathogenic
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 Dejerine-Sottas disease Roussy-Lévy syndrome
Variation info
Gene MPZ
CLNDBN 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 Dejerine-Sottas disease Roussy-Lévy syndrome
Reversed 0
HGVS NC_000001.10:g.161276252G>T
CLNSRC
CLNACC RCV000195798.1,