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rs1057523690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057523690(-;-)
Make rs1057523690(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position44339309
GenePREPL
is asnp
is mentioned by
dbSNPrs1057523690
dbSNP (old)rs1057523690
ClinGenrs1057523690
ebirs1057523690
HLIrs1057523690
Exacrs1057523690
Gnomadrs1057523690
Varsomers1057523690
Maprs1057523690
PheGenIrs1057523690
Biobankrs1057523690
1000 genomesrs1057523690
hgdprs1057523690
ensemblrs1057523690
gopubmedrs1057523690
geneviewrs1057523690
scholarrs1057523690
googlers1057523690
pharmgkbrs1057523690
gwascentralrs1057523690
openSNPrs1057523690
23andMers1057523690
23andMe allrs1057523690
SNPshotrs1057523690
SNPdbers1057523690
MSV3drs1057523690
GWAS Ctlgrs1057523690
Max Magnitude0
ClinVar
Risk rs1057523690(-;-)
Alt rs1057523690(-;-)
Reference Rs1057523690(T;T)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene PREPL
CLNDBN Myasthenic syndrome, congenital, 22
Reversed 1
HGVS NC_000002.11:g.44566448delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000437878.1,