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rs1057517248

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517248(-;-)
Make rs1057517248(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108256215
GeneATM
is asnp
is mentioned by
dbSNPrs1057517248
dbSNP (old)rs1057517248
ClinGenrs1057517248
ebirs1057517248
HLIrs1057517248
Exacrs1057517248
Gnomadrs1057517248
Varsomers1057517248
Maprs1057517248
PheGenIrs1057517248
Biobankrs1057517248
1000 genomesrs1057517248
hgdprs1057517248
ensemblrs1057517248
gopubmedrs1057517248
geneviewrs1057517248
scholarrs1057517248
googlers1057517248
pharmgkbrs1057517248
gwascentralrs1057517248
openSNPrs1057517248
23andMers1057517248
23andMe allrs1057517248
SNPshotrs1057517248
SNPdbers1057517248
MSV3drs1057517248
GWAS Ctlgrs1057517248
Max Magnitude0
ClinVar
Risk rs1057517248(-;-)
Alt rs1057517248(-;-)
Reference Rs1057517248(A;A)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108126942delA
CLNSRC
CLNACC RCV000412308.1,