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rs78846775

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78846775(G;T)
Make rs78846775(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48467253
GeneTREX1
is asnp
is mentioned by
dbSNPrs78846775
ebirs78846775
HLIrs78846775
Exacrs78846775
Varsomers78846775
Maprs78846775
PheGenIrs78846775
hapmaprs78846775
1000 genomesrs78846775
hgdprs78846775
ensemblrs78846775
gopubmedrs78846775
geneviewrs78846775
scholarrs78846775
googlers78846775
pharmgkbrs78846775
gwascentralrs78846775
openSNPrs78846775
23andMers78846775
23andMe allrs78846775
SNP Nexus

SNPshotrs78846775
SNPdbers78846775
MSV3drs78846775
GWAS Ctlgrs78846775
Max Magnitude0
OMIM606609
Desc
Variant0006
Relatedalso
ClinVar
Risk rs78846775(A,T;A,T)
Alt rs78846775(A,T;A,T)
Reference rs78846775(G;G)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1 Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1, autosomal dominant Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508652G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004402.2, RCV000114331.2,