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rs78408272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs78408272(A;A)
Make rs78408272(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48467257
GeneTREX1
is asnp
is mentioned by
dbSNPrs78408272
ebirs78408272
HLIrs78408272
Exacrs78408272
Varsomers78408272
Maprs78408272
PheGenIrs78408272
hapmaprs78408272
1000 genomesrs78408272
hgdprs78408272
ensemblrs78408272
gopubmedrs78408272
geneviewrs78408272
scholarrs78408272
googlers78408272
pharmgkbrs78408272
gwascentralrs78408272
openSNPrs78408272
23andMers78408272
23andMe allrs78408272
SNP Nexus

SNPshotrs78408272
SNPdbers78408272
MSV3drs78408272
GWAS Ctlgrs78408272
Max Magnitude0
OMIM606609
Desc
Variant0004
Relatedalso
ClinVar
Risk rs78408272(A;A)
Alt rs78408272(A;A)
Reference rs78408272(T;T)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508656T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004400.3,


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