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rs1057516905

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516905(-;GC)
Make rs1057516905(GC;GC)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108321331
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs1057516905
dbSNP (classic)rs1057516905
ClinGenrs1057516905
ebirs1057516905
HLIrs1057516905
Exacrs1057516905
Gnomadrs1057516905
Varsomers1057516905
LitVarrs1057516905
Maprs1057516905
PheGenIrs1057516905
Biobankrs1057516905
1000 genomesrs1057516905
hgdprs1057516905
ensemblrs1057516905
geneviewrs1057516905
scholarrs1057516905
googlers1057516905
pharmgkbrs1057516905
gwascentralrs1057516905
openSNPrs1057516905
23andMers1057516905
SNPshotrs1057516905
SNPdbers1057516905
MSV3drs1057516905
GWAS Ctlgrs1057516905
Max Magnitude0
ClinVar
Risk rs1057516905(GC;GC)
Alt rs1057516905(GC;GC)
Reference Rs1057516905(-;-)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108192057_108192058dupGC
CLNSRC
CLNACC RCV000410862.1,