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rs794726974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726974(A;A)
Make rs794726974(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position10649544
GeneJAG1, MIR6870
is asnp
is mentioned by
dbSNPrs794726974
dbSNP (classic)rs794726974
ClinGenrs794726974
ebirs794726974
HLIrs794726974
Exacrs794726974
Gnomadrs794726974
Varsomers794726974
LitVarrs794726974
Maprs794726974
PheGenIrs794726974
Biobankrs794726974
1000 genomesrs794726974
hgdprs794726974
ensemblrs794726974
geneviewrs794726974
scholarrs794726974
googlers794726974
pharmgkbrs794726974
gwascentralrs794726974
openSNPrs794726974
23andMers794726974
SNPshotrs794726974
SNPdbers794726974
MSV3drs794726974
GWAS Ctlgrs794726974
Max Magnitude0
ClinVar
Risk rs794726974(A;A)
Alt rs794726974(A;A)
Reference Rs794726974(G;G)
Significance Pathogenic
Disease Alagille syndrome 1
Variation info
Gene MIR6870 JAG1
CLNDBN Alagille syndrome 1
Reversed 1
HGVS NC_000020.10:g.10630192C>T
CLNSRC
CLNACC RCV000173659.1,