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rs121908288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908288(C;T)
Make rs121908288(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position109735199
GeneFIG4
is asnp
is mentioned by
dbSNPrs121908288
dbSNP (classic)rs121908288
ClinGenrs121908288
ebirs121908288
HLIrs121908288
Exacrs121908288
Gnomadrs121908288
Varsomers121908288
LitVarrs121908288
Maprs121908288
PheGenIrs121908288
Biobankrs121908288
1000 genomesrs121908288
hgdprs121908288
ensemblrs121908288
geneviewrs121908288
scholarrs121908288
googlers121908288
pharmgkbrs121908288
gwascentralrs121908288
openSNPrs121908288
23andMers121908288
SNPshotrs121908288
SNPdbers121908288
MSV3drs121908288
GWAS Ctlgrs121908288
GMAF0.0009183
Max Magnitude0
OMIM609390
Desc
Variant0003
Relatedalso
OMIM609390
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908288(A;A) rs121908288(T;T)
Alt rs121908288(A;A) rs121908288(T;T)
Reference Rs121908288(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Amyotrophic lateral sclerosis type 11 not provided
Variation info
Gene FIG4
CLNDBN Charcot-Marie-Tooth disease, type 4J Amyotrophic lateral sclerosis type 11 not provided
Reversed 0
HGVS NC_000006.11:g.110056402C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001793.3, RCV000001796.3, RCV000235305.1,