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rs786202800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TTTCAGTGCC) 4 linked to certain hereditary cancers
(TTTCAGTGCC;TTTCAGTGCC) 0 common in clinvar


Make rs786202800(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position108343348
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs786202800
dbSNP (classic)rs786202800
ClinGenrs786202800
ebirs786202800
HLIrs786202800
Exacrs786202800
Gnomadrs786202800
Varsomers786202800
LitVarrs786202800
Maprs786202800
PheGenIrs786202800
Biobankrs786202800
1000 genomesrs786202800
hgdprs786202800
ensemblrs786202800
geneviewrs786202800
scholarrs786202800
googlers786202800
pharmgkbrs786202800
gwascentralrs786202800
openSNPrs786202800
23andMers786202800
SNPshotrs786202800
SNPdbers786202800
MSV3drs786202800
GWAS Ctlgrs786202800
Merged fromRs761367329
Max Magnitude4
ClinVar
Risk rs786202800(-;-)
Alt rs786202800(-;-)
Reference Rs786202800(TTTCAGTGCC;TTTCAGTGCC)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Variation info
Gene C11orf65 ATM
CLNDBN Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Reversed 0
HGVS NC_000011.9:g.108214075_108214084delTTTCAGTGCC
CLNSRC
CLNACC RCV000165801.2, RCV000204163.2, RCV000255017.2,