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rs397514505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514505(C;G)
Make rs397514505(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position154601180
GeneADAR
is asnp
is mentioned by
dbSNPrs397514505
ebirs397514505
HLIrs397514505
Exacrs397514505
Varsomers397514505
Maprs397514505
PheGenIrs397514505
hapmaprs397514505
1000 genomesrs397514505
hgdprs397514505
ensemblrs397514505
gopubmedrs397514505
geneviewrs397514505
scholarrs397514505
googlers397514505
pharmgkbrs397514505
gwascentralrs397514505
openSNPrs397514505
23andMers397514505
23andMe allrs397514505
SNP Nexus

SNPshotrs397514505
SNPdbers397514505
MSV3drs397514505
GWAS Ctlgrs397514505
Max Magnitude0
ClinVar
Risk rs397514505(G;G)
Alt rs397514505(G;G)
Reference rs397514505(C;C)
Significance Pathogenic
Disease Aicardi-goutieres syndrome 6
Variation info
Gene ADAR
CLNDBN Aicardi-goutieres syndrome 6
Reversed 1
HGVS NC_000001.10:g.154573656G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032649.24,