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rs587776690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776690(C;C)
Make rs587776690(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position142556439
GeneATR
is asnp
is mentioned by
dbSNPrs587776690
ebirs587776690
HLIrs587776690
Exacrs587776690
Varsomers587776690
Maprs587776690
PheGenIrs587776690
hapmaprs587776690
1000 genomesrs587776690
hgdprs587776690
ensemblrs587776690
gopubmedrs587776690
geneviewrs587776690
scholarrs587776690
googlers587776690
pharmgkbrs587776690
gwascentralrs587776690
openSNPrs587776690
23andMers587776690
23andMe allrs587776690
SNP Nexus

SNPshotrs587776690
SNPdbers587776690
MSV3drs587776690
GWAS Ctlgrs587776690
Max Magnitude0
ClinVar
Risk rs587776690(C,T;C,T)
Alt rs587776690(C,T;C,T)
Reference rs587776690(A;A)
Significance Pathogenic
Disease Seckel syndrome 1
Variation info
Gene ATR
CLNDBN Seckel syndrome 1
Reversed 1
HGVS NC_000003.11:g.142275281T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008805.3,