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

rs58238559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs58238559(C;C)
Make rs58238559(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position87452957
GeneABCB4
is asnp
is mentioned by
dbSNPrs58238559
ebirs58238559
HLIrs58238559
Exacrs58238559
Varsomers58238559
Maprs58238559
PheGenIrs58238559
hapmaprs58238559
1000 genomesrs58238559
hgdprs58238559
ensemblrs58238559
gopubmedrs58238559
geneviewrs58238559
scholarrs58238559
googlers58238559
pharmgkbrs58238559
gwascentralrs58238559
openSNPrs58238559
23andMers58238559
23andMe allrs58238559
SNP Nexus

SNPshotrs58238559
SNPdbers58238559
MSV3drs58238559
GWAS Ctlgrs58238559
GMAF0.005969
Max Magnitude0
OMIM171060
Desc
Variant0006
Relatedalso


ClinVar
Risk rs58238559(C;C)
Alt rs58238559(C;C)
Reference rs58238559(T;T)
Significance Pathogenic
Disease Cholecystitis not provided
Variation info
Gene ABCB4
CLNDBN Cholecystitis not provided
Reversed 0
HGVS NC_000007.13:g.87082273T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014690.25, RCV000224371.1,



GET Evidence
ABCB4-T175A
aa_change Thr175Ala
aa_change_short T175A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00780814
summary