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rs1057519297

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519297(-;AT)
Make rs1057519297(AT;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position112646362
GeneLARP7
is asnp
is mentioned by
dbSNPrs1057519297
dbSNP (old)rs1057519297
ClinGenrs1057519297
ebirs1057519297
HLIrs1057519297
Exacrs1057519297
Gnomadrs1057519297
Varsomers1057519297
Maprs1057519297
PheGenIrs1057519297
Biobankrs1057519297
1000 genomesrs1057519297
hgdprs1057519297
ensemblrs1057519297
gopubmedrs1057519297
geneviewrs1057519297
scholarrs1057519297
googlers1057519297
pharmgkbrs1057519297
gwascentralrs1057519297
openSNPrs1057519297
23andMers1057519297
23andMe allrs1057519297
SNPshotrs1057519297
SNPdbers1057519297
MSV3drs1057519297
GWAS Ctlgrs1057519297
Max Magnitude0
ClinVar
Risk rs1057519297(AT;AT)
Alt rs1057519297(AT;AT)
Reference Rs1057519297(-;-)
Significance Pathogenic
Disease Alazami syndrome
Variation info
Gene LARP7
CLNDBN Alazami syndrome
Reversed 0
HGVS NC_000004.11:g.113567517_113567518dupAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000415594.1,