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rs281865128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865128(C;C)
Make rs281865128(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306426
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865128
ebirs281865128
HLIrs281865128
Exacrs281865128
Varsomers281865128
Maprs281865128
PheGenIrs281865128
hapmaprs281865128
1000 genomesrs281865128
hgdprs281865128
ensemblrs281865128
gopubmedrs281865128
geneviewrs281865128
scholarrs281865128
googlers281865128
pharmgkbrs281865128
gwascentralrs281865128
openSNPrs281865128
23andMers281865128
23andMe allrs281865128
SNP Nexus

SNPshotrs281865128
SNPdbers281865128
MSV3drs281865128
GWAS Ctlgrs281865128
Max Magnitude0
ClinVar
Risk rs281865128(C;C)
Alt rs281865128(C;C)
Reference rs281865128(G;G)
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 1
HGVS NC_000001.10:g.161276216C>G; NC_000001.10:g.161276216C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033919.2, RCV000205003.2, RCV000217802.1, RCV000193606.1,