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rs876658248

From SNPedia

Orientationplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs876658248(-;-)
Make rs876658248(-;TG)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position108287704
GeneATM
is asnp
is mentioned by
dbSNPrs876658248
ebirs876658248
HLIrs876658248
Exacrs876658248
Varsomers876658248
Maprs876658248
PheGenIrs876658248
hapmaprs876658248
1000 genomesrs876658248
hgdprs876658248
ensemblrs876658248
gopubmedrs876658248
geneviewrs876658248
scholarrs876658248
googlers876658248
pharmgkbrs876658248
gwascentralrs876658248
openSNPrs876658248
23andMers876658248
23andMe allrs876658248
SNP Nexus

SNPshotrs876658248
SNPdbers876658248
MSV3drs876658248
GWAS Ctlgrs876658248
Max Magnitude0
ClinVar
Risk rs876658248(;)
Alt rs876658248(;)
Reference rs876658248(TG;TG)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108158431_108158432delTG
CLNSRC
CLNACC RCV000221878.1, RCV000229319.1,