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rs786204119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204119(A;G)
Make rs786204119(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position161307310
GeneMPZ
is asnp
is mentioned by
dbSNPrs786204119
dbSNP (classic)rs786204119
ClinGenrs786204119
ebirs786204119
HLIrs786204119
Exacrs786204119
Gnomadrs786204119
Varsomers786204119
LitVarrs786204119
Maprs786204119
PheGenIrs786204119
Biobankrs786204119
1000 genomesrs786204119
hgdprs786204119
ensemblrs786204119
geneviewrs786204119
scholarrs786204119
googlers786204119
pharmgkbrs786204119
gwascentralrs786204119
openSNPrs786204119
23andMers786204119
SNPshotrs786204119
SNPdbers786204119
MSV3drs786204119
GWAS Ctlgrs786204119
Max Magnitude0
ClinVar
Risk rs786204119(G;G)
Alt rs786204119(G;G)
Reference Rs786204119(A;A)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, type I not provided
Reversed 1
HGVS NC_000001.10:g.161277100T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000168067.1, RCV000236489.1,