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rs1057516620

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516620(C;G)
Make rs1057516620(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108256225
GeneATM
is asnp
is mentioned by
dbSNPrs1057516620
dbSNP (classic)rs1057516620
ClinGenrs1057516620
ebirs1057516620
HLIrs1057516620
Exacrs1057516620
Gnomadrs1057516620
Varsomers1057516620
LitVarrs1057516620
Maprs1057516620
PheGenIrs1057516620
Biobankrs1057516620
1000 genomesrs1057516620
hgdprs1057516620
ensemblrs1057516620
geneviewrs1057516620
scholarrs1057516620
googlers1057516620
pharmgkbrs1057516620
gwascentralrs1057516620
openSNPrs1057516620
23andMers1057516620
SNPshotrs1057516620
SNPdbers1057516620
MSV3drs1057516620
GWAS Ctlgrs1057516620
Max Magnitude0
ClinVar
Risk rs1057516620(G;G)
Alt rs1057516620(G;G)
Reference Rs1057516620(C;C)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108126952C>G
CLNSRC
CLNACC RCV000412348.1,