Have questions? Visit https://www.reddit.com/r/SNPedia

rs730880279

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880279(C;C)
Make rs730880279(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position31102313
GeneDDX11
is asnp
is mentioned by
dbSNPrs730880279
ebirs730880279
HLIrs730880279
Exacrs730880279
Varsomers730880279
Maprs730880279
PheGenIrs730880279
hapmaprs730880279
1000 genomesrs730880279
hgdprs730880279
ensemblrs730880279
gopubmedrs730880279
geneviewrs730880279
scholarrs730880279
googlers730880279
pharmgkbrs730880279
gwascentralrs730880279
openSNPrs730880279
23andMers730880279
23andMe allrs730880279
SNP Nexus

SNPshotrs730880279
SNPdbers730880279
MSV3drs730880279
GWAS Ctlgrs730880279
Max Magnitude0
ClinVar
Risk rs730880279(C;C)
Alt rs730880279(C;C)
Reference rs730880279(T;T)
Significance Pathogenic
Disease Warsaw breakage syndrome
Variation info
Gene DDX11
CLNDBN Warsaw breakage syndrome
Reversed 0
HGVS NC_000012.11:g.31255247T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008874.4,