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rs770546306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs770546306(G;T)
Make rs770546306(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position161307402
GeneMPZ
is asnp
is mentioned by
dbSNPrs770546306
dbSNP (classic)rs770546306
ClinGenrs770546306
ebirs770546306
HLIrs770546306
Exacrs770546306
Gnomadrs770546306
Varsomers770546306
LitVarrs770546306
Maprs770546306
PheGenIrs770546306
Biobankrs770546306
1000 genomesrs770546306
hgdprs770546306
ensemblrs770546306
geneviewrs770546306
scholarrs770546306
googlers770546306
pharmgkbrs770546306
gwascentralrs770546306
openSNPrs770546306
23andMers770546306
SNPshotrs770546306
SNPdbers770546306
MSV3drs770546306
GWAS Ctlgrs770546306
Max Magnitude0
ClinVar
Risk rs770546306(A;A) rs770546306(C;C) rs770546306(T;T)
Alt rs770546306(A;A) rs770546306(C;C) rs770546306(T;T)
Reference Rs770546306(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease, type I
Reversed 0
HGVS NC_000001.10:g.161277192G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000201151.1, RCV000464045.1,