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rs879253755

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879253755(C;C)
Make rs879253755(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position127502795
GeneLRSAM1
is asnp
is mentioned by
dbSNPrs879253755
dbSNP (classic)rs879253755
ClinGenrs879253755
ebirs879253755
HLIrs879253755
Exacrs879253755
Gnomadrs879253755
Varsomers879253755
LitVarrs879253755
Maprs879253755
PheGenIrs879253755
Biobankrs879253755
1000 genomesrs879253755
hgdprs879253755
ensemblrs879253755
geneviewrs879253755
scholarrs879253755
googlers879253755
pharmgkbrs879253755
gwascentralrs879253755
openSNPrs879253755
23andMers879253755
SNPshotrs879253755
SNPdbers879253755
MSV3drs879253755
GWAS Ctlgrs879253755
Max Magnitude0
ClinVar
Risk rs879253755(C;C)
Alt rs879253755(C;C)
Reference Rs879253755(T;T)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease type 2P
Variation info
Gene LRSAM1
CLNDBN Charcot-Marie-Tooth disease type 2P
Reversed 0
HGVS NC_000009.11:g.130265074T>C
CLNSRC University Hospital of Geneva
CLNACC RCV000234917.1,