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rs1572983

From SNPedia

Orientationplus
Stabilizedplus
Make rs1572983(C;C)
Make rs1572983(C;T)
Make rs1572983(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position101371346
GeneBAAT
is asnp
is mentioned by
dbSNPrs1572983
ebirs1572983
HLIrs1572983
Exacrs1572983
Varsomers1572983
Maprs1572983
PheGenIrs1572983
hapmaprs1572983
1000 genomesrs1572983
hgdprs1572983
ensemblrs1572983
gopubmedrs1572983
geneviewrs1572983
scholarrs1572983
googlers1572983
pharmgkbrs1572983
gwascentralrs1572983
openSNPrs1572983
23andMers1572983
23andMe allrs1572983
SNP Nexus

SNPshotrs1572983
SNPdbers1572983
MSV3drs1572983
GWAS Ctlgrs1572983
GMAF0.3829
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene BAAT
allele T
frequency 0.65
sift TOLERATED
HuRef 1103652142948
Disease Association Defects in BAAT are involved in familial hypercholanemia (FHCA) (MIM:607748). FHCA is a disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.



Neighborrs28937579
Distance167

[PMID 17495420] Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals.


GET Evidence
BAAT-R20Q
aa_change Arg20Gln
aa_change_short R20Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.626696
summary