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rs730881385

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730881385(G;T)
Make rs730881385(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108335104
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs730881385
ebirs730881385
HLIrs730881385
Exacrs730881385
Varsomers730881385
Maprs730881385
PheGenIrs730881385
hapmaprs730881385
1000 genomesrs730881385
hgdprs730881385
ensemblrs730881385
gopubmedrs730881385
geneviewrs730881385
scholarrs730881385
googlers730881385
pharmgkbrs730881385
gwascentralrs730881385
openSNPrs730881385
23andMers730881385
23andMe allrs730881385
SNP Nexus

SNPshotrs730881385
SNPdbers730881385
MSV3drs730881385
GWAS Ctlgrs730881385
Max Magnitude0
ClinVar
Risk rs730881385(T;T)
Alt rs730881385(T;T)
Reference rs730881385(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene C11orf65 ATM
CLNDBN Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000011.9:g.108205831G>T
CLNSRC
CLNACC RCV000159753.1, RCV000222195.1,