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

rs1057519329

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519329(A;A)
Make rs1057519329(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position58534476
GeneACOX2, LOC107984079
is asnp
is mentioned by
dbSNPrs1057519329
dbSNP (old)rs1057519329
ClinGenrs1057519329
ebirs1057519329
HLIrs1057519329
Exacrs1057519329
Gnomadrs1057519329
Varsomers1057519329
Maprs1057519329
PheGenIrs1057519329
Biobankrs1057519329
1000 genomesrs1057519329
hgdprs1057519329
ensemblrs1057519329
gopubmedrs1057519329
geneviewrs1057519329
scholarrs1057519329
googlers1057519329
pharmgkbrs1057519329
gwascentralrs1057519329
openSNPrs1057519329
23andMers1057519329
23andMe allrs1057519329
SNPshotrs1057519329
SNPdbers1057519329
MSV3drs1057519329
GWAS Ctlgrs1057519329
Max Magnitude0
ClinVar
Risk rs1057519329(A;A)
Alt rs1057519329(A;A)
Reference Rs1057519329(T;T)
Significance Pathogenic
Disease Bile acid synthesis defect
Variation info
Gene ACOX2
CLNDBN Bile acid synthesis defect, congenital, 6
Reversed 1
HGVS NC_000003.11:g.58520203A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416307.2,