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rs1057518839

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518839(G;G)
Make rs1057518839(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position161305924
GeneMPZ
is asnp
is mentioned by
dbSNPrs1057518839
dbSNP (old)rs1057518839
ClinGenrs1057518839
ebirs1057518839
HLIrs1057518839
Exacrs1057518839
Gnomadrs1057518839
Varsomers1057518839
Maprs1057518839
PheGenIrs1057518839
Biobankrs1057518839
1000 genomesrs1057518839
hgdprs1057518839
ensemblrs1057518839
gopubmedrs1057518839
geneviewrs1057518839
scholarrs1057518839
googlers1057518839
pharmgkbrs1057518839
gwascentralrs1057518839
openSNPrs1057518839
23andMers1057518839
23andMe allrs1057518839
SNPshotrs1057518839
SNPdbers1057518839
MSV3drs1057518839
GWAS Ctlgrs1057518839
Max Magnitude0
ClinVar
Risk rs1057518839(G;G)
Alt rs1057518839(G;G)
Reference Rs1057518839(T;T)
Significance Probable-Pathogenic
Disease EMG: neuropathic changes Limb muscle weakness Tremor Sensorimotor neuropathy
Variation info
Gene MPZ
CLNDBN EMG: neuropathic changes Limb muscle weakness Tremor Sensorimotor neuropathy
Reversed 1
HGVS NC_000001.10:g.161275714A>C
CLNSRC
CLNACC RCV000414872.1, RCV000415393.1,