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rs121909088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909088(A;G)
Make rs121909088(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position10819992
GeneDNM2
is asnp
is mentioned by
dbSNPrs121909088
ebirs121909088
HLIrs121909088
Exacrs121909088
Varsomers121909088
Maprs121909088
PheGenIrs121909088
hapmaprs121909088
1000 genomesrs121909088
hgdprs121909088
ensemblrs121909088
gopubmedrs121909088
geneviewrs121909088
scholarrs121909088
googlers121909088
pharmgkbrs121909088
gwascentralrs121909088
openSNPrs121909088
23andMers121909088
23andMe allrs121909088
SNP Nexus

SNPshotrs121909088
SNPdbers121909088
MSV3drs121909088
GWAS Ctlgrs121909088
Max Magnitude0
OMIM602378
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909088(G;G)
Alt rs121909088(G;G)
Reference rs121909088(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene DNM2
CLNDBN Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia
Reversed 0
HGVS NC_000019.9:g.10930668A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007700.2,