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rs876660495

From SNPedia

Orientationplus
Geno Mag Summary
(CTCGC;CTCGC) 0 common in clinvar
Make rs876660495(A;A)
Make rs876660495(A;CTCGC)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position108304809
GeneATM
is asnp
is mentioned by
dbSNPrs876660495
ebirs876660495
HLIrs876660495
Exacrs876660495
Varsomers876660495
Maprs876660495
PheGenIrs876660495
hapmaprs876660495
1000 genomesrs876660495
hgdprs876660495
ensemblrs876660495
gopubmedrs876660495
geneviewrs876660495
scholarrs876660495
googlers876660495
pharmgkbrs876660495
gwascentralrs876660495
openSNPrs876660495
23andMers876660495
23andMe allrs876660495
SNP Nexus

SNPshotrs876660495
SNPdbers876660495
MSV3drs876660495
GWAS Ctlgrs876660495
Max Magnitude0
ClinVar
Risk rs876660495(A;A)
Alt rs876660495(A;A)
Reference rs876660495(CTCGC;CTCGC)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene ATM
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108175536_108175540delCTCGCinsA
CLNSRC
CLNACC RCV000218244.1,