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rs1057519330

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519330(-;-)
Make rs1057519330(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108249059
GeneATM
is asnp
is mentioned by
dbSNPrs1057519330
dbSNP (old)rs1057519330
ClinGenrs1057519330
ebirs1057519330
HLIrs1057519330
Exacrs1057519330
Gnomadrs1057519330
Varsomers1057519330
Maprs1057519330
PheGenIrs1057519330
Biobankrs1057519330
1000 genomesrs1057519330
hgdprs1057519330
ensemblrs1057519330
gopubmedrs1057519330
geneviewrs1057519330
scholarrs1057519330
googlers1057519330
pharmgkbrs1057519330
gwascentralrs1057519330
openSNPrs1057519330
23andMers1057519330
23andMe allrs1057519330
SNPshotrs1057519330
SNPdbers1057519330
MSV3drs1057519330
GWAS Ctlgrs1057519330
Max Magnitude0
ClinVar
Risk rs1057519330(-;-)
Alt rs1057519330(-;-)
Reference Rs1057519330(G;G)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108119786delG
CLNSRC
CLNACC RCV000416289.1,