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rs730880378

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880378(C;T)
Make rs730880378(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position94490846
GeneMRE11A
is asnp
is mentioned by
dbSNPrs730880378
ebirs730880378
HLIrs730880378
Exacrs730880378
Varsomers730880378
Maprs730880378
PheGenIrs730880378
hapmaprs730880378
1000 genomesrs730880378
hgdprs730880378
ensemblrs730880378
gopubmedrs730880378
geneviewrs730880378
scholarrs730880378
googlers730880378
pharmgkbrs730880378
gwascentralrs730880378
openSNPrs730880378
23andMers730880378
23andMe allrs730880378
SNP Nexus

SNPshotrs730880378
SNPdbers730880378
MSV3drs730880378
GWAS Ctlgrs730880378
Max Magnitude0
ClinVar
Risk rs730880378(T;T)
Alt rs730880378(T;T)
Reference rs730880378(C;C)
Significance Pathogenic
Disease Ataxia-telangiectasia-like disorder
Variation info
Gene MRE11A
CLNDBN Ataxia-telangiectasia-like disorder
Reversed 1
HGVS NC_000011.9:g.94224012G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157663.3,