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rs121913605

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913605(C;G)
Make rs121913605(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307306
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913605
ebirs121913605
HLIrs121913605
Exacrs121913605
Varsomers121913605
Maprs121913605
PheGenIrs121913605
hapmaprs121913605
1000 genomesrs121913605
hgdprs121913605
ensemblrs121913605
gopubmedrs121913605
geneviewrs121913605
scholarrs121913605
googlers121913605
pharmgkbrs121913605
gwascentralrs121913605
openSNPrs121913605
23andMers121913605
23andMe allrs121913605
SNP Nexus

SNPshotrs121913605
SNPdbers121913605
MSV3drs121913605
GWAS Ctlgrs121913605
Max Magnitude0
OMIM159440
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121913605(G;G)
Alt rs121913605(G;G)
Reference rs121913605(C;C)
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.161277096G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015258.26,