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rs730881348

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730881348(C;T)
Make rs730881348(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108259035
GeneATM
is asnp
is mentioned by
dbSNPrs730881348
ebirs730881348
HLIrs730881348
Exacrs730881348
Varsomers730881348
Maprs730881348
PheGenIrs730881348
hapmaprs730881348
1000 genomesrs730881348
hgdprs730881348
ensemblrs730881348
gopubmedrs730881348
geneviewrs730881348
scholarrs730881348
googlers730881348
pharmgkbrs730881348
gwascentralrs730881348
openSNPrs730881348
23andMers730881348
23andMe allrs730881348
SNP Nexus

SNPshotrs730881348
SNPdbers730881348
MSV3drs730881348
GWAS Ctlgrs730881348
Max Magnitude0
ClinVar
Risk rs730881348(A,T;A,T)
Alt rs730881348(A,T;A,T)
Reference rs730881348(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided not specified Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene ATM
CLNDBN Hereditary cancer-predisposing syndrome not provided not specified Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108129762C>A; NC_000011.9:g.108129762C>T
CLNSRC
CLNACC RCV000167295.1, RCV000235751.1, RCV000159694.1, RCV000221491.1,