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rs1057516358

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1057516358(AC;AC)
Make rs1057516358(AC;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108299838
GeneATM
is asnp
is mentioned by
dbSNPrs1057516358
dbSNP (old)rs1057516358
ClinGenrs1057516358
ebirs1057516358
HLIrs1057516358
Exacrs1057516358
Gnomadrs1057516358
Varsomers1057516358
LitVarrs1057516358
Maprs1057516358
PheGenIrs1057516358
Biobankrs1057516358
1000 genomesrs1057516358
hgdprs1057516358
ensemblrs1057516358
gopubmedrs1057516358
geneviewrs1057516358
scholarrs1057516358
googlers1057516358
pharmgkbrs1057516358
gwascentralrs1057516358
openSNPrs1057516358
23andMers1057516358
23andMe allrs1057516358
SNPshotrs1057516358
SNPdbers1057516358
MSV3drs1057516358
GWAS Ctlgrs1057516358
Max Magnitude0
ClinVar
Risk rs1057516358(AC;AC)
Alt rs1057516358(AC;AC)
Reference Rs1057516358(GA;GA)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108170565_108170566delGAinsAC
CLNSRC
CLNACC RCV000410022.1,