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rs797045403

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045403(G;T)
Make rs797045403(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position142513500
GeneATR
is asnp
is mentioned by
dbSNPrs797045403
dbSNP (classic)rs797045403
ClinGenrs797045403
ebirs797045403
HLIrs797045403
Exacrs797045403
Gnomadrs797045403
Varsomers797045403
LitVarrs797045403
Maprs797045403
PheGenIrs797045403
Biobankrs797045403
1000 genomesrs797045403
hgdprs797045403
ensemblrs797045403
geneviewrs797045403
scholarrs797045403
googlers797045403
pharmgkbrs797045403
gwascentralrs797045403
openSNPrs797045403
23andMers797045403
SNPshotrs797045403
SNPdbers797045403
MSV3drs797045403
GWAS Ctlgrs797045403
Max Magnitude0
ClinVar
Risk rs797045403(T;T)
Alt rs797045403(T;T)
Reference Rs797045403(G;G)
Significance Pathogenic
Disease Seckel syndrome 1
Variation info
Gene ATR
CLNDBN Seckel syndrome 1
Reversed 1
HGVS NC_000003.11:g.142232342C>A
CLNSRC
CLNACC RCV000193414.1,