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rs1057519298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAAG;AGAAG) 0 common in clinvar
Make rs1057519298(-;-)
Make rs1057519298(-;GAAGA)
Make rs1057519298(GAAGA;GAAGA)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position112647203
GeneLARP7
is asnp
is mentioned by
dbSNPrs1057519298
dbSNP (classic)rs1057519298
ClinGenrs1057519298
ebirs1057519298
HLIrs1057519298
Exacrs1057519298
Gnomadrs1057519298
Varsomers1057519298
LitVarrs1057519298
Maprs1057519298
PheGenIrs1057519298
Biobankrs1057519298
1000 genomesrs1057519298
hgdprs1057519298
ensemblrs1057519298
geneviewrs1057519298
scholarrs1057519298
googlers1057519298
pharmgkbrs1057519298
gwascentralrs1057519298
openSNPrs1057519298
23andMers1057519298
23andMe allrs1057519298
SNPshotrs1057519298
SNPdbers1057519298
MSV3drs1057519298
GWAS Ctlgrs1057519298
Max Magnitude0
ClinVar
Risk rs1057519298(-;-)
Alt rs1057519298(-;-)
Reference Rs1057519298(AGAAG;AGAAG)
Significance Pathogenic
Disease Alazami syndrome
Variation info
Gene LARP7
CLNDBN Alazami syndrome
Reversed 0
HGVS NC_000004.11:g.113568359_113568363delGAAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000415535.1,