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rs1057516301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516301(-;C)
Make rs1057516301(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108279521
GeneATM
is asnp
is mentioned by
dbSNPrs1057516301
dbSNP (classic)rs1057516301
ClinGenrs1057516301
ebirs1057516301
HLIrs1057516301
Exacrs1057516301
Gnomadrs1057516301
Varsomers1057516301
LitVarrs1057516301
Maprs1057516301
PheGenIrs1057516301
Biobankrs1057516301
1000 genomesrs1057516301
hgdprs1057516301
ensemblrs1057516301
geneviewrs1057516301
scholarrs1057516301
googlers1057516301
pharmgkbrs1057516301
gwascentralrs1057516301
openSNPrs1057516301
23andMers1057516301
SNPshotrs1057516301
SNPdbers1057516301
MSV3drs1057516301
GWAS Ctlgrs1057516301
Max Magnitude0
ClinVar
Risk rs1057516301(C;C)
Alt rs1057516301(C;C)
Reference Rs1057516301(-;-)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108150248dupC
CLNSRC
CLNACC RCV000410832.1,