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rs121908615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.1 Charcot-Marie-Tooth Disease, type 1
(G;G) 0 common in clinvar


Make rs121908615(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position11549693
GeneLITAF
is asnp
is mentioned by
dbSNPrs121908615
dbSNP (classic)rs121908615
ClinGenrs121908615
ebirs121908615
HLIrs121908615
Exacrs121908615
Gnomadrs121908615
Varsomers121908615
LitVarrs121908615
Maprs121908615
PheGenIrs121908615
Biobankrs121908615
1000 genomesrs121908615
hgdprs121908615
ensemblrs121908615
geneviewrs121908615
scholarrs121908615
googlers121908615
pharmgkbrs121908615
gwascentralrs121908615
openSNPrs121908615
23andMers121908615
SNPshotrs121908615
SNPdbers121908615
MSV3drs121908615
GWAS Ctlgrs121908615
Max Magnitude6.1
OMIM603795
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908615(A;A)
Alt rs121908615(A;A)
Reference Rs121908615(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene LITAF
CLNDBN Charcot-Marie-Tooth disease, type 1C
Reversed 1
HGVS NC_000016.9:g.11643549C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006433.2,