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rs78218009

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78218009(C;T)
Make rs78218009(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48467145
GeneTREX1
is asnp
is mentioned by
dbSNPrs78218009
ebirs78218009
HLIrs78218009
Exacrs78218009
Varsomers78218009
Maprs78218009
PheGenIrs78218009
hapmaprs78218009
1000 genomesrs78218009
hgdprs78218009
ensemblrs78218009
gopubmedrs78218009
geneviewrs78218009
scholarrs78218009
googlers78218009
pharmgkbrs78218009
gwascentralrs78218009
openSNPrs78218009
23andMers78218009
23andMe allrs78218009
SNP Nexus

SNPshotrs78218009
SNPdbers78218009
MSV3drs78218009
GWAS Ctlgrs78218009
Max Magnitude0
OMIM606609
Desc
Variant0002
Relatedalso
ClinVar
Risk rs78218009(T;T)
Alt rs78218009(T;T)
Reference rs78218009(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508544C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004398.4,


[PMID 16845398] Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus.