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rs1057517129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517129(-;-)
Make rs1057517129(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108282736
GeneATM
is asnp
is mentioned by
dbSNPrs1057517129
dbSNP (classic)rs1057517129
ClinGenrs1057517129
ebirs1057517129
HLIrs1057517129
Exacrs1057517129
Gnomadrs1057517129
Varsomers1057517129
LitVarrs1057517129
Maprs1057517129
PheGenIrs1057517129
Biobankrs1057517129
1000 genomesrs1057517129
hgdprs1057517129
ensemblrs1057517129
geneviewrs1057517129
scholarrs1057517129
googlers1057517129
pharmgkbrs1057517129
gwascentralrs1057517129
openSNPrs1057517129
23andMers1057517129
23andMe allrs1057517129
SNPshotrs1057517129
SNPdbers1057517129
MSV3drs1057517129
GWAS Ctlgrs1057517129
Max Magnitude0
ClinVar
Risk rs1057517129(-;-)
Alt rs1057517129(-;-)
Reference Rs1057517129(T;T)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108153463delT
CLNSRC
CLNACC RCV000410047.1,