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rs78705193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs78705193(-;-)
Make rs78705193(-;CG)
Make rs78705193(CG;CG)
ReferenceGRCh38 38.1/141
Chromosome19
Position12813162
GeneRNASEH2A
is asnp
is mentioned by
dbSNPrs78705193
ebirs78705193
HLIrs78705193
Exacrs78705193
Varsomers78705193
Maprs78705193
PheGenIrs78705193
hapmaprs78705193
1000 genomesrs78705193
hgdprs78705193
ensemblrs78705193
gopubmedrs78705193
geneviewrs78705193
scholarrs78705193
googlers78705193
pharmgkbrs78705193
gwascentralrs78705193
openSNPrs78705193
23andMers78705193
23andMe allrs78705193
SNP Nexus

SNPshotrs78705193
SNPdbers78705193
MSV3drs78705193
GWAS Ctlgrs78705193
Max Magnitude0
ClinVar
Risk rs78705193(GC;GC)
Alt rs78705193(GC;GC)
Reference rs78705193(;)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 4
Variation info
Gene RNASEH2A
CLNDBN Aicardi Goutieres syndrome 4
Reversed 0
HGVS NC_000019.9:g.12923975_12923976dupGC
CLNSRC ClinVar
CLNACC RCV000114340.2,