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rs876660980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs876660980(C;T)
Make rs876660980(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position10656450
GeneJAG1
is asnp
is mentioned by
dbSNPrs876660980
dbSNP (classic)rs876660980
ClinGenrs876660980
ebirs876660980
HLIrs876660980
Exacrs876660980
Gnomadrs876660980
Varsomers876660980
LitVarrs876660980
Maprs876660980
PheGenIrs876660980
Biobankrs876660980
1000 genomesrs876660980
hgdprs876660980
ensemblrs876660980
geneviewrs876660980
scholarrs876660980
googlers876660980
pharmgkbrs876660980
gwascentralrs876660980
openSNPrs876660980
23andMers876660980
SNPshotrs876660980
SNPdbers876660980
MSV3drs876660980
GWAS Ctlgrs876660980
Max Magnitude0
ClinVar
Risk rs876660980(T;T)
Alt rs876660980(T;T)
Reference Rs876660980(C;C)
Significance Pathogenic
Disease not provided Alagille syndrome 1
Variation info
Gene JAG1
CLNDBN not provided Alagille syndrome 1
Reversed 1
HGVS NC_000020.10:g.10637098G>A
CLNSRC
CLNACC RCV000218714.1, RCV000408642.1,