Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913599(A;A)
Make rs121913599(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306763
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913599
ebirs121913599
HLIrs121913599
Exacrs121913599
Varsomers121913599
Maprs121913599
PheGenIrs121913599
hapmaprs121913599
1000 genomesrs121913599
hgdprs121913599
ensemblrs121913599
gopubmedrs121913599
geneviewrs121913599
scholarrs121913599
googlers121913599
pharmgkbrs121913599
gwascentralrs121913599
openSNPrs121913599
23andMers121913599
23andMe allrs121913599
SNP Nexus

SNPshotrs121913599
SNPdbers121913599
MSV3drs121913599
GWAS Ctlgrs121913599
Max Magnitude0
ClinVar
Risk rs121913599(A;A)
Alt rs121913599(A;A)
Reference rs121913599(C;C)
Significance Pathogenic
Disease Roussy-Lévy syndrome Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Roussy-Lévy syndrome Charcot-Marie-Tooth disease, demyelinating, type 1b
Reversed 1
HGVS NC_000001.10:g.161276553G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015250.26, RCV000192587.1,


OMIM159440
Desc
Variant0021
Relatedalso