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rs9938550

From SNPedia

Orientationplus
Stabilizedplus
Make rs9938550(A;A)
Make rs9938550(A;G)
Make rs9938550(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position30987821
GeneHSD3B7
is asnp
is mentioned by
dbSNPrs9938550
ebirs9938550
HLIrs9938550
Exacrs9938550
Varsomers9938550
Maprs9938550
PheGenIrs9938550
hapmaprs9938550
1000 genomesrs9938550
hgdprs9938550
ensemblrs9938550
gopubmedrs9938550
geneviewrs9938550
scholarrs9938550
googlers9938550
pharmgkbrs9938550
gwascentralrs9938550
openSNPrs9938550
23andMers9938550
23andMe allrs9938550
SNP Nexus

SNPshotrs9938550
SNPdbers9938550
MSV3drs9938550
GWAS Ctlgrs9938550
GMAF0.3765
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene HSD3B7
allele G
frequency
sift TOLERATED
HuRef 1103645461614
Disease Association Defects in HSD3B7 are the cause of progressive familial intrahepatic cholestasis type 4 (PFIC4) (MIM:607765); also known as neonatal progressive intrahepatic cholestasis. PFIC4 is an autosomal recessive form of severe cholestatic liver disease. It presents in infancy with intermittent jaundice and cholestasis and progresses to end-stage liver disease and death in childhood.



GET Evidence
HSD3B7-T250A
aa_change Thr250Ala
aa_change_short T250A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.515994
summary