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

rs774925473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs774925473(A;G)
Make rs774925473(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position108309110
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs774925473
dbSNP (classic)rs774925473
ClinGenrs774925473
ebirs774925473
HLIrs774925473
Exacrs774925473
Gnomadrs774925473
Varsomers774925473
LitVarrs774925473
Maprs774925473
PheGenIrs774925473
Biobankrs774925473
1000 genomesrs774925473
hgdprs774925473
ensemblrs774925473
geneviewrs774925473
scholarrs774925473
googlers774925473
pharmgkbrs774925473
gwascentralrs774925473
openSNPrs774925473
23andMers774925473
SNPshotrs774925473
SNPdbers774925473
MSV3drs774925473
GWAS Ctlgrs774925473
Max Magnitude0
ClinVar
Risk rs774925473(G;G)
Alt rs774925473(G;G)
Reference Rs774925473(A;A)
Significance Pathogenic
Disease Ataxia-telangiectasia variant Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia variant Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.108179837A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003157.4, RCV000229886.2, RCV000494077.1,