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rs1057516590

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516590(-;-)
Make rs1057516590(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108271397
GeneATM
is asnp
is mentioned by
dbSNPrs1057516590
dbSNP (classic)rs1057516590
ClinGenrs1057516590
ebirs1057516590
HLIrs1057516590
Exacrs1057516590
Gnomadrs1057516590
Varsomers1057516590
LitVarrs1057516590
Maprs1057516590
PheGenIrs1057516590
Biobankrs1057516590
1000 genomesrs1057516590
hgdprs1057516590
ensemblrs1057516590
geneviewrs1057516590
scholarrs1057516590
googlers1057516590
pharmgkbrs1057516590
gwascentralrs1057516590
openSNPrs1057516590
23andMers1057516590
SNPshotrs1057516590
SNPdbers1057516590
MSV3drs1057516590
GWAS Ctlgrs1057516590
Max Magnitude0
ClinVar
Risk rs1057516590(-;-)
Alt rs1057516590(-;-)
Reference Rs1057516590(G;G)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108142124delG
CLNSRC
CLNACC RCV000411095.1,