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rs387907327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907327(G;T)
Make rs387907327(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position142497116
GeneATR
is asnp
is mentioned by
dbSNPrs387907327
ebirs387907327
HLIrs387907327
Exacrs387907327
Varsomers387907327
Maprs387907327
PheGenIrs387907327
hapmaprs387907327
1000 genomesrs387907327
hgdprs387907327
ensemblrs387907327
gopubmedrs387907327
geneviewrs387907327
scholarrs387907327
googlers387907327
pharmgkbrs387907327
gwascentralrs387907327
openSNPrs387907327
23andMers387907327
23andMe allrs387907327
SNP Nexus

SNPshotrs387907327
SNPdbers387907327
MSV3drs387907327
GWAS Ctlgrs387907327
Max Magnitude0
ClinVar
Risk rs387907327(T;T)
Alt rs387907327(T;T)
Reference rs387907327(G;G)
Significance Pathogenic
Disease Seckel syndrome 1
Variation info
Gene ATR
CLNDBN Seckel syndrome 1
Reversed 1
HGVS NC_000003.11:g.142215958C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034827.3,