Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517100(-;-)
Make rs1057517100(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108284470
GeneATM
is asnp
is mentioned by
dbSNPrs1057517100
dbSNP (classic)rs1057517100
ClinGenrs1057517100
ebirs1057517100
HLIrs1057517100
Exacrs1057517100
Gnomadrs1057517100
Varsomers1057517100
LitVarrs1057517100
Maprs1057517100
PheGenIrs1057517100
Biobankrs1057517100
1000 genomesrs1057517100
hgdprs1057517100
ensemblrs1057517100
geneviewrs1057517100
scholarrs1057517100
googlers1057517100
pharmgkbrs1057517100
gwascentralrs1057517100
openSNPrs1057517100
23andMers1057517100
SNPshotrs1057517100
SNPdbers1057517100
MSV3drs1057517100
GWAS Ctlgrs1057517100
Max Magnitude0
ClinVar
Risk rs1057517100(-;-)
Alt rs1057517100(-;-)
Reference Rs1057517100(A;A)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108155197delA
CLNSRC
CLNACC RCV000410960.1,