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rs1057518965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518965(-;-)
Make rs1057518965(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108244812
GeneATM
is asnp
is mentioned by
dbSNPrs1057518965
dbSNP (old)rs1057518965
ClinGenrs1057518965
ebirs1057518965
HLIrs1057518965
Exacrs1057518965
Gnomadrs1057518965
Varsomers1057518965
LitVarrs1057518965
Maprs1057518965
PheGenIrs1057518965
Biobankrs1057518965
1000 genomesrs1057518965
hgdprs1057518965
ensemblrs1057518965
gopubmedrs1057518965
geneviewrs1057518965
scholarrs1057518965
googlers1057518965
pharmgkbrs1057518965
gwascentralrs1057518965
openSNPrs1057518965
23andMers1057518965
23andMe allrs1057518965
SNPshotrs1057518965
SNPdbers1057518965
MSV3drs1057518965
GWAS Ctlgrs1057518965
Max Magnitude0
ClinVar
Risk rs1057518965(-;-)
Alt rs1057518965(-;-)
Reference Rs1057518965(A;A)
Significance Pathogenic
Disease Ataxia Conjunctival telangiectasia Immunodeficiency Oculomotor apraxia
Variation info
Gene ATM
CLNDBN Ataxia Conjunctival telangiectasia Immunodeficiency Oculomotor apraxia
Reversed 0
HGVS NC_000011.9:g.108115539delA
CLNSRC
CLNACC RCV000415022.1,