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rs927344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs927344(A;A)
Make rs927344(A;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position99784690
GeneABCC2
is asnp
is mentioned by
dbSNPrs927344
ebirs927344
HLIrs927344
Exacrs927344
Varsomers927344
Maprs927344
PheGenIrs927344
hapmaprs927344
1000 genomesrs927344
hgdprs927344
ensemblrs927344
gopubmedrs927344
geneviewrs927344
scholarrs927344
googlers927344
pharmgkbrs927344
gwascentralrs927344
openSNPrs927344
23andMers927344
23andMe allrs927344
SNP Nexus

SNPshotrs927344
SNPdbers927344
MSV3drs927344
GWAS Ctlgrs927344
GMAF0.004132
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene ABCC2
allele T
frequency 1
sift TOLERATED
HuRef 1103694036458
Disease Association Defects in ABCC2 are the cause of Dubin-Johnson syndrome (DJS) (MIM:237500). DJS is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function.



GET Evidence
ABCC2-Y39F
aa_change Tyr39Phe
aa_change_short Y39F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.992935
summary