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

rs748840480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Breast cancer associated mutation
(G;G) 0 common in clinvar
(G;T) 6 Breast cancer associated mutation


Make rs748840480(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108245027
GeneATM
is asnp
is mentioned by
dbSNPrs748840480
dbSNP (classic)rs748840480
ClinGenrs748840480
ebirs748840480
HLIrs748840480
Exacrs748840480
Gnomadrs748840480
Varsomers748840480
LitVarrs748840480
Maprs748840480
PheGenIrs748840480
Biobankrs748840480
1000 genomesrs748840480
hgdprs748840480
ensemblrs748840480
geneviewrs748840480
scholarrs748840480
googlers748840480
pharmgkbrs748840480
gwascentralrs748840480
openSNPrs748840480
23andMers748840480
SNPshotrs748840480
SNPdbers748840480
MSV3drs748840480
GWAS Ctlgrs748840480
Max Magnitude6
ClinVar
Risk rs748840480(A;A) rs748840480(C;C) rs748840480(T;T)
Alt rs748840480(A;A) rs748840480(C;C) rs748840480(T;T)
Reference Rs748840480(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Variation info
Gene ATM
CLNDBN Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Reversed 0
HGVS NC_000011.9:g.108115754G>A; NC_000011.9:g.108115754G>C; NC_000011.9:g.108115754G>T
CLNSRC
CLNACC RCV000166407.3, RCV000205735.2, RCV000439479.1, RCV000216527.1,