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rs1057517253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517253(C;G)
Make rs1057517253(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108271102
GeneATM
is asnp
is mentioned by
dbSNPrs1057517253
dbSNP (old)rs1057517253
ClinGenrs1057517253
ebirs1057517253
HLIrs1057517253
Exacrs1057517253
Gnomadrs1057517253
Varsomers1057517253
LitVarrs1057517253
Maprs1057517253
PheGenIrs1057517253
Biobankrs1057517253
1000 genomesrs1057517253
hgdprs1057517253
ensemblrs1057517253
gopubmedrs1057517253
geneviewrs1057517253
scholarrs1057517253
googlers1057517253
pharmgkbrs1057517253
gwascentralrs1057517253
openSNPrs1057517253
23andMers1057517253
23andMe allrs1057517253
SNPshotrs1057517253
SNPdbers1057517253
MSV3drs1057517253
GWAS Ctlgrs1057517253
Max Magnitude0
ClinVar
Risk rs1057517253(G;G)
Alt rs1057517253(G;G)
Reference Rs1057517253(C;C)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108141829C>G
CLNSRC
CLNACC RCV000409221.1,