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rs281865122

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865122(A;A)
Make rs281865122(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307317
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865122
ebirs281865122
HLIrs281865122
Exacrs281865122
Varsomers281865122
Maprs281865122
PheGenIrs281865122
hapmaprs281865122
1000 genomesrs281865122
hgdprs281865122
ensemblrs281865122
gopubmedrs281865122
geneviewrs281865122
scholarrs281865122
googlers281865122
pharmgkbrs281865122
gwascentralrs281865122
openSNPrs281865122
23andMers281865122
23andMe allrs281865122
SNP Nexus

SNPshotrs281865122
SNPdbers281865122
MSV3drs281865122
GWAS Ctlgrs281865122
Max Magnitude0
ClinVar
Risk rs281865122(A;A)
Alt rs281865122(A;A)
Reference rs281865122(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1b
Reversed 1
HGVS NC_000001.10:g.161277107A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033912.1,