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rs730880280

From SNPedia

Orientationplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs730880280(-;-)
Make rs730880280(-;AAG)
Make rs730880280(AAG;AAG)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position31103729
GeneDDX11
is asnp
is mentioned by
dbSNPrs730880280
ebirs730880280
HLIrs730880280
Exacrs730880280
Varsomers730880280
Maprs730880280
PheGenIrs730880280
hapmaprs730880280
1000 genomesrs730880280
hgdprs730880280
ensemblrs730880280
gopubmedrs730880280
geneviewrs730880280
scholarrs730880280
googlers730880280
pharmgkbrs730880280
gwascentralrs730880280
openSNPrs730880280
23andMers730880280
23andMe allrs730880280
SNP Nexus

SNPshotrs730880280
SNPdbers730880280
MSV3drs730880280
GWAS Ctlgrs730880280
Max Magnitude0
ClinVar
Risk rs730880280(;)
Alt rs730880280(;)
Reference rs730880280(AGA;AGA)
Significance Pathogenic
Disease Warsaw breakage syndrome
Variation info
Gene DDX11
CLNDBN Warsaw breakage syndrome
Reversed 0
HGVS NC_000012.11:g.31256663_31256665delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008875.5,