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rs587777851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777851(A;A)
Make rs587777851(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position142541008
GeneATR
is asnp
is mentioned by
dbSNPrs587777851
dbSNP (classic)rs587777851
ClinGenrs587777851
ebirs587777851
HLIrs587777851
Exacrs587777851
Gnomadrs587777851
Varsomers587777851
LitVarrs587777851
Maprs587777851
PheGenIrs587777851
Biobankrs587777851
1000 genomesrs587777851
hgdprs587777851
ensemblrs587777851
geneviewrs587777851
scholarrs587777851
googlers587777851
pharmgkbrs587777851
gwascentralrs587777851
openSNPrs587777851
23andMers587777851
SNPshotrs587777851
SNPdbers587777851
MSV3drs587777851
GWAS Ctlgrs587777851
Max Magnitude0
ClinVar
Risk rs587777851(A;A)
Alt rs587777851(A;A)
Reference Rs587777851(C;C)
Significance Pathogenic
Disease Seckel syndrome 1
Variation info
Gene ATR
CLNDBN Seckel syndrome 1
Reversed 0
HGVS NC_000003.11:g.142259850C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144692.2,