Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908117(A;A)
Make rs121908117(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48466707
GeneTREX1
is asnp
is mentioned by
dbSNPrs121908117
ebirs121908117
HLIrs121908117
Exacrs121908117
Varsomers121908117
Maprs121908117
PheGenIrs121908117
hapmaprs121908117
1000 genomesrs121908117
hgdprs121908117
ensemblrs121908117
gopubmedrs121908117
geneviewrs121908117
scholarrs121908117
googlers121908117
pharmgkbrs121908117
gwascentralrs121908117
openSNPrs121908117
23andMers121908117
23andMe allrs121908117
SNP Nexus

SNPshotrs121908117
SNPdbers121908117
MSV3drs121908117
GWAS Ctlgrs121908117
Max Magnitude0
OMIM606609
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908117(A;A)
Alt rs121908117(A;A)
Reference rs121908117(G;G)
Significance Pathogenic
Disease Chilblain lupus 1 Aicardi Goutieres syndrome 1 Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Chilblain lupus 1 Aicardi Goutieres syndrome 1, autosomal dominant Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508106G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004404.3, RCV000004405.3, RCV000114329.2,