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rs121913604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913604(C;C)
Make rs121913604(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307314
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913604
ebirs121913604
HLIrs121913604
Exacrs121913604
Varsomers121913604
Maprs121913604
PheGenIrs121913604
hapmaprs121913604
1000 genomesrs121913604
hgdprs121913604
ensemblrs121913604
gopubmedrs121913604
geneviewrs121913604
scholarrs121913604
googlers121913604
pharmgkbrs121913604
gwascentralrs121913604
openSNPrs121913604
23andMers121913604
23andMe allrs121913604
SNP Nexus

SNPshotrs121913604
SNPdbers121913604
MSV3drs121913604
GWAS Ctlgrs121913604
Max Magnitude0
OMIM159440
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121913604(C;C)
Alt rs121913604(C;C)
Reference rs121913604(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2I
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease type 2I
Reversed 1
HGVS NC_000001.10:g.161277104C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015257.26,