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rs1057516442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516442(A;T)
Make rs1057516442(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108245002
GeneATM
is asnp
is mentioned by
dbSNPrs1057516442
dbSNP (classic)rs1057516442
ClinGenrs1057516442
ebirs1057516442
HLIrs1057516442
Exacrs1057516442
Gnomadrs1057516442
Varsomers1057516442
LitVarrs1057516442
Maprs1057516442
PheGenIrs1057516442
Biobankrs1057516442
1000 genomesrs1057516442
hgdprs1057516442
ensemblrs1057516442
geneviewrs1057516442
scholarrs1057516442
googlers1057516442
pharmgkbrs1057516442
gwascentralrs1057516442
openSNPrs1057516442
23andMers1057516442
23andMe allrs1057516442
SNPshotrs1057516442
SNPdbers1057516442
MSV3drs1057516442
GWAS Ctlgrs1057516442
Max Magnitude0
ClinVar
Risk rs1057516442(T;T)
Alt rs1057516442(T;T)
Reference Rs1057516442(A;A)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108115729A>T
CLNSRC
CLNACC RCV000411113.1,