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rs781404312

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs781404312(A;A)
Make rs781404312(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108227627
GeneATM
is asnp
is mentioned by
dbSNPrs781404312
ebirs781404312
HLIrs781404312
Exacrs781404312
Varsomers781404312
Maprs781404312
PheGenIrs781404312
hapmaprs781404312
1000 genomesrs781404312
hgdprs781404312
ensemblrs781404312
gopubmedrs781404312
geneviewrs781404312
scholarrs781404312
googlers781404312
pharmgkbrs781404312
gwascentralrs781404312
openSNPrs781404312
23andMers781404312
23andMe allrs781404312
SNP Nexus

SNPshotrs781404312
SNPdbers781404312
MSV3drs781404312
GWAS Ctlgrs781404312
Max Magnitude0
ClinVar
Risk rs781404312(A;A)
Alt rs781404312(A;A)
Reference rs781404312(G;G)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108098354G>A
CLNSRC
CLNACC RCV000169261.1, RCV000215466.1, RCV000223021.1,