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rs864622129

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864622129(A;A)
Make rs864622129(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position108272853
GeneATM
is asnp
is mentioned by
dbSNPrs864622129
ebirs864622129
HLIrs864622129
Exacrs864622129
Varsomers864622129
Maprs864622129
PheGenIrs864622129
hapmaprs864622129
1000 genomesrs864622129
hgdprs864622129
ensemblrs864622129
gopubmedrs864622129
geneviewrs864622129
scholarrs864622129
googlers864622129
pharmgkbrs864622129
gwascentralrs864622129
openSNPrs864622129
23andMers864622129
23andMe allrs864622129
SNP Nexus

SNPshotrs864622129
SNPdbers864622129
MSV3drs864622129
GWAS Ctlgrs864622129
Max Magnitude0
ClinVar
Risk rs864622129(A;A)
Alt rs864622129(A;A)
Reference rs864622129(G;G)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 0
HGVS NC_000011.9:g.108143580G>A
CLNSRC
CLNACC RCV000206819.1, RCV000220530.1, RCV000235974.1,