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rs1057517427

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517427(G;T)
Make rs1057517427(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108297383
GeneATM
is asnp
is mentioned by
dbSNPrs1057517427
dbSNP (old)rs1057517427
ClinGenrs1057517427
ebirs1057517427
HLIrs1057517427
Exacrs1057517427
Gnomadrs1057517427
Varsomers1057517427
Maprs1057517427
PheGenIrs1057517427
Biobankrs1057517427
1000 genomesrs1057517427
hgdprs1057517427
ensemblrs1057517427
gopubmedrs1057517427
geneviewrs1057517427
scholarrs1057517427
googlers1057517427
pharmgkbrs1057517427
gwascentralrs1057517427
openSNPrs1057517427
23andMers1057517427
23andMe allrs1057517427
SNPshotrs1057517427
SNPdbers1057517427
MSV3drs1057517427
GWAS Ctlgrs1057517427
Max Magnitude0
ClinVar
Risk rs1057517427(T;T)
Alt rs1057517427(T;T)
Reference Rs1057517427(G;G)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108168110G>T
CLNSRC
CLNACC RCV000412271.1,