Chr :
chr2
Position :
43851647
Ref Allele :
C
Alt Allele :
A
AAChange refGene :
ABCG8:NM_022437:exon4:c.C386A:p.S129X
UCSC :
chr2-43851647-C-A
OMIM :
ABCG8
dbSNP :
rs762540907
Gene Function :
exonic
Exonic Function :
stopgain

Clinical annotations are based on clinvar version 2019-03-05.

Disease condition(s) :
-
Clinical significance :
-
SIFT : -
Polyphen2 HDIV : -
Polyphen2 HVAR : -
LRT : Deleterious
MutationTaster : Disease Causing Automatic
MutationAssessor : -
FATHMM : -
PROVEAN : -
VEST3 score : -
VEST3 rankscore : -
MetaSVM : -
MetaLR : -
M-CAP : -
REVEL score : -
REVEL rankscore : -
MutPred score : -
MutPred rankscore : -
CADD : 37
DANN score : 0.997
DANN rankscore : 0.778
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.673
Eigen PC raw : 0.514
GenoCanyon score : 0.996
GenoCanyon score rankscore : 0.347
integrated fitCons score : 0.487
integrated fitCons score rankscore : 0.133
integrated confidence value : 0
GERP++ RS : 4.03
GERP++_RS rankscore : 0.459
phyloP100way vertebrate : 3.532
phyloP100way vertebrate rankscore : 0.531
phyloP20way mammalian : 0.935
phyloP20way mammalian rankscore : 0.49
phastCons100way vertebrate : 0.958
phastCons100way vertebrate rankscore : 0.332
phastCons20way mammalian : 0.993
phastCons20way mammalian rankscore : 0.574
SiPhy 29way logOdds : 13.613
SiPhy 29way logOdds rankscore : 0.614
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2052
  • Homozygous :    0
  • Heterozygous :    1
1000 Genome
All AFR AMR EAS SAS EUR
- - - - - -
gnomAD
All AFR AMR EAS SAS AMI ASJ FIN NFE OTH
- - - - - - - - - -
GME
All NWA NEA AP Israel SD TP CA
- - - - - - - -
Esp6500
All
-

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