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rs748840480

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs748840480(A;A)
Make rs748840480(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108245027
GeneATM
is asnp
is mentioned by
dbSNPrs748840480
ebirs748840480
HLIrs748840480
Exacrs748840480
Varsomers748840480
Maprs748840480
PheGenIrs748840480
hapmaprs748840480
1000 genomesrs748840480
hgdprs748840480
ensemblrs748840480
gopubmedrs748840480
geneviewrs748840480
scholarrs748840480
googlers748840480
pharmgkbrs748840480
gwascentralrs748840480
openSNPrs748840480
23andMers748840480
23andMe allrs748840480
SNP Nexus

SNPshotrs748840480
SNPdbers748840480
MSV3drs748840480
GWAS Ctlgrs748840480
Max Magnitude0
ClinVar
Risk rs748840480(A;A)
Alt rs748840480(A;A)
Reference rs748840480(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene ATM
CLNDBN Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108115754G>A; NC_000011.9:g.108115754G>T
CLNSRC
CLNACC RCV000166407.1, RCV000205735.1, RCV000216527.1,