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rs748634900

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs748634900(A;A)
Make rs748634900(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108343246
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs748634900
dbSNP (classic)rs748634900
ClinGenrs748634900
ebirs748634900
HLIrs748634900
Exacrs748634900
Gnomadrs748634900
Varsomers748634900
LitVarrs748634900
Maprs748634900
PheGenIrs748634900
Biobankrs748634900
1000 genomesrs748634900
hgdprs748634900
ensemblrs748634900
geneviewrs748634900
scholarrs748634900
googlers748634900
pharmgkbrs748634900
gwascentralrs748634900
openSNPrs748634900
23andMers748634900
SNPshotrs748634900
SNPdbers748634900
MSV3drs748634900
GWAS Ctlgrs748634900
Max Magnitude0
ClinVar
Risk rs748634900(A;A)
Alt rs748634900(A;A)
Reference Rs748634900(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome
Variation info
Gene C11orf65 ATM
CLNDBN Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108213973G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000165932.3, RCV000200060.1,