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rs387907032

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907032(A;A)
Make rs387907032(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position127501011
GeneLRSAM1
is asnp
is mentioned by
dbSNPrs387907032
dbSNP (classic)rs387907032
ClinGenrs387907032
ebirs387907032
HLIrs387907032
Exacrs387907032
Gnomadrs387907032
Varsomers387907032
LitVarrs387907032
Maprs387907032
PheGenIrs387907032
Biobankrs387907032
1000 genomesrs387907032
hgdprs387907032
ensemblrs387907032
geneviewrs387907032
scholarrs387907032
googlers387907032
pharmgkbrs387907032
gwascentralrs387907032
openSNPrs387907032
23andMers387907032
SNPshotrs387907032
SNPdbers387907032
MSV3drs387907032
GWAS Ctlgrs387907032
Max Magnitude0
ClinVar
Risk rs387907032(A;A) rs387907032(C;C)
Alt rs387907032(A;A) rs387907032(C;C)
Reference Rs387907032(G;G)
Significance 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.130263290G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023844.4,