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rs398123037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123037(-;-)
Make rs398123037(-;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position45485750
GeneLARS2, LARS2-AS1
is asnp
is mentioned by
dbSNPrs398123037
dbSNP (classic)rs398123037
ClinGenrs398123037
ebirs398123037
HLIrs398123037
Exacrs398123037
Gnomadrs398123037
Varsomers398123037
LitVarrs398123037
Maprs398123037
PheGenIrs398123037
Biobankrs398123037
1000 genomesrs398123037
hgdprs398123037
ensemblrs398123037
geneviewrs398123037
scholarrs398123037
googlers398123037
pharmgkbrs398123037
gwascentralrs398123037
openSNPrs398123037
23andMers398123037
SNPshotrs398123037
SNPdbers398123037
MSV3drs398123037
GWAS Ctlgrs398123037
Max Magnitude0
ClinVar
Risk rs398123037(-;-)
Alt rs398123037(-;-)
Reference Rs398123037(T;T)
Significance Pathogenic
Disease Perrault syndrome 4
Variation info
Gene LARS2 LARS2-AS1
CLNDBN Perrault syndrome 4
Reversed 0
HGVS NC_000003.11:g.45527242delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000049287.4,