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rs121908160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908160(A;T)
Make rs121908160(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position10258602
GeneKIF1B
is asnp
is mentioned by
dbSNPrs121908160
dbSNP (classic)rs121908160
ClinGenrs121908160
ebirs121908160
HLIrs121908160
Exacrs121908160
Gnomadrs121908160
Varsomers121908160
LitVarrs121908160
Maprs121908160
PheGenIrs121908160
Biobankrs121908160
1000 genomesrs121908160
hgdprs121908160
ensemblrs121908160
geneviewrs121908160
scholarrs121908160
googlers121908160
pharmgkbrs121908160
gwascentralrs121908160
openSNPrs121908160
23andMers121908160
SNPshotrs121908160
SNPdbers121908160
MSV3drs121908160
GWAS Ctlgrs121908160
Max Magnitude0
OMIM605995
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908160(T;T)
Alt rs121908160(T;T)
Reference Rs121908160(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene KIF1B
CLNDBN Charcot-Marie-Tooth disease, type 2A1 Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000001.10:g.10318660A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004921.2, RCV000192235.1,