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rs756899044

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756899044(C;C)
Make rs756899044(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position108353831
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs756899044
ebirs756899044
HLIrs756899044
Exacrs756899044
Varsomers756899044
Maprs756899044
PheGenIrs756899044
hapmaprs756899044
1000 genomesrs756899044
hgdprs756899044
ensemblrs756899044
gopubmedrs756899044
geneviewrs756899044
scholarrs756899044
googlers756899044
pharmgkbrs756899044
gwascentralrs756899044
openSNPrs756899044
23andMers756899044
23andMe allrs756899044
SNP Nexus

SNPshotrs756899044
SNPdbers756899044
MSV3drs756899044
GWAS Ctlgrs756899044
Max Magnitude0
ClinVar
Risk rs756899044(C;C)
Alt rs756899044(C;C)
Reference rs756899044(G;G)
Significance Probable-Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108224558G>C; NC_000011.9:g.108224558G>T
CLNSRC
CLNACC RCV000216806.1, RCV000234738.1, RCV000221292.1,