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rs749036865

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs749036865(C;T)
Make rs749036865(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position108250834
GeneATM
is asnp
is mentioned by
dbSNPrs749036865
ebirs749036865
HLIrs749036865
Exacrs749036865
Varsomers749036865
Maprs749036865
PheGenIrs749036865
hapmaprs749036865
1000 genomesrs749036865
hgdprs749036865
ensemblrs749036865
gopubmedrs749036865
geneviewrs749036865
scholarrs749036865
googlers749036865
pharmgkbrs749036865
gwascentralrs749036865
openSNPrs749036865
23andMers749036865
23andMe allrs749036865
SNP Nexus

SNPshotrs749036865
SNPdbers749036865
MSV3drs749036865
GWAS Ctlgrs749036865
Max Magnitude0
ClinVar
Risk rs749036865(G,T;G,T)
Alt rs749036865(G,T;G,T)
Reference rs749036865(C;C)
Significance Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108121561C>G; NC_000011.9:g.108121561C>T
CLNSRC
CLNACC RCV000229490.1, RCV000205849.2,