Have questions? Visit https://www.reddit.com/r/SNPedia

rs2227924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs2227924(C;G)
Make rs2227924(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position108251865
GeneATM
is asnp
is mentioned by
dbSNPrs2227924
ebirs2227924
HLIrs2227924
Exacrs2227924
Varsomers2227924
Maprs2227924
PheGenIrs2227924
hapmaprs2227924
1000 genomesrs2227924
hgdprs2227924
ensemblrs2227924
gopubmedrs2227924
geneviewrs2227924
scholarrs2227924
googlers2227924
pharmgkbrs2227924
gwascentralrs2227924
openSNPrs2227924
23andMers2227924
23andMe allrs2227924
SNP Nexus

SNPshotrs2227924
SNPdbers2227924
MSV3drs2227924
GWAS Ctlgrs2227924
Merged fromRs4987945
GMAF0.01377
Max Magnitude0
? (C;C) (C;G) (G;G) 28
GET Evidence
ATM-L546V
aa_change Leu546Val
aa_change_short L546V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0174754
summary


ClinVar
Risk rs2227924(G;G)
Alt rs2227924(G;G)
Reference rs2227924(C;C)
Significance Non-pathogenic
Disease not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Variation info
Gene ATM
CLNDBN not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Reversed 0
HGVS NC_000011.9:g.108122592C>G
CLNSRC Ambry Genetics ClinVar GeneDx
CLNACC RCV000120117.2, RCV000128892.4, RCV000205062.2, RCV000224104.1,