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rs1057516944

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057516944(-;-)
Make rs1057516944(-;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108267310
GeneATM
is asnp
is mentioned by
dbSNPrs1057516944
dbSNP (classic)rs1057516944
ClinGenrs1057516944
ebirs1057516944
HLIrs1057516944
Exacrs1057516944
Gnomadrs1057516944
Varsomers1057516944
LitVarrs1057516944
Maprs1057516944
PheGenIrs1057516944
Biobankrs1057516944
1000 genomesrs1057516944
hgdprs1057516944
ensemblrs1057516944
geneviewrs1057516944
scholarrs1057516944
googlers1057516944
pharmgkbrs1057516944
gwascentralrs1057516944
openSNPrs1057516944
23andMers1057516944
SNPshotrs1057516944
SNPdbers1057516944
MSV3drs1057516944
GWAS Ctlgrs1057516944
Max Magnitude0
ClinVar
Risk rs1057516944(-;-)
Alt rs1057516944(-;-)
Reference Rs1057516944(CA;CA)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108138037_108138038delCA
CLNSRC
CLNACC RCV000409497.1,