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rs28942103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28942103(A;G)
Make rs28942103(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position108334988
GeneATM, C11orf65
is asnp
is mentioned by
dbSNPrs28942103
ebirs28942103
HLIrs28942103
Exacrs28942103
Varsomers28942103
Maprs28942103
PheGenIrs28942103
hapmaprs28942103
1000 genomesrs28942103
hgdprs28942103
ensemblrs28942103
gopubmedrs28942103
geneviewrs28942103
scholarrs28942103
googlers28942103
pharmgkbrs28942103
gwascentralrs28942103
openSNPrs28942103
23andMers28942103
23andMe allrs28942103
SNP Nexus

SNPshotrs28942103
SNPdbers28942103
MSV3drs28942103
GWAS Ctlgrs28942103
Max Magnitude0
OMIM607585
DescATAXIA-TELANGIECTASIA VARIANT
Variant0028
Relatedalso
OMIM607585
Desc
Variant0029
Relatedalso
ClinVar
Risk rs28942103(G;G)
Alt rs28942103(G;G)
Reference rs28942103(A;A)
Significance Pathogenic
Disease Ataxia-telangiectasia variant
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia variant
Reversed 0
HGVS NC_000011.9:g.108205715A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003186.5,