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rs222581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs222581(C;C)
Make rs222581(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position57650444
GeneATP8B1, RP11-35G9.3
is asnp
is mentioned by
dbSNPrs222581
ebirs222581
HLIrs222581
Exacrs222581
Varsomers222581
Maprs222581
PheGenIrs222581
hapmaprs222581
1000 genomesrs222581
hgdprs222581
ensemblrs222581
gopubmedrs222581
geneviewrs222581
scholarrs222581
googlers222581
pharmgkbrs222581
gwascentralrs222581
openSNPrs222581
23andMers222581
23andMe allrs222581
SNP Nexus

SNPshotrs222581
SNPdbers222581
MSV3drs222581
GWAS Ctlgrs222581
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene ATP8B1
allele T
frequency 1
sift TOLERATED
HuRef 1103645208686
Disease Association Defects in ATP8B1 may be associated with recurrent intrahepatic cholestasis of pregnancy (RICP) (MIM:147480); also known as pregnancy-related cholestasis. RICP is characterized by generalized itching, with or without jaundice, absence of biliary colic, absence of jaundice or pruritus between pregnancies, and absence of chronic liver disease. Appears during pregnancy (primarily in the third trimester), and disappears shortly postpartum. May be a female-limited autosomal dominant inheritance.



GET Evidence
ATP8B1-A1152T
aa_change Ala1152Thr
aa_change_short A1152T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.998699
summary