Chr :
chr11
Position :
5504313
Ref Allele :
T
Alt Allele :
C
AAChange refGene :
-
OMIM :
dbSNP :
Gene Function :
intronic
Exonic Function :
-

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

Disease condition(s) :
-
Clinical significance :
-
SIFT : -
Polyphen2 HDIV : -
Polyphen2 HVAR : -
LRT : -
MutationTaster : -
MutationAssessor : -
FATHMM : -
PROVEAN : -
VEST3 score : -
VEST3 rankscore : -
MetaSVM : -
MetaLR : -
M-CAP : -
REVEL score : -
REVEL rankscore : -
MutPred score : -
MutPred rankscore : -
CADD : -
DANN score : -
DANN rankscore : -
fathmm MKL coding : -
Eigen coding or noncoding : -
Eigen raw : -
Eigen PC raw : -
GenoCanyon score : -
GenoCanyon score rankscore : -
integrated fitCons score : -
integrated fitCons score rankscore : -
integrated confidence value : -
GERP++ RS : -
GERP++_RS rankscore : -
phyloP100way vertebrate : -
phyloP100way vertebrate rankscore : -
phyloP20way mammalian : -
phyloP20way mammalian rankscore : -
phastCons100way vertebrate : -
phastCons100way vertebrate rankscore : -
phastCons20way mammalian : -
phastCons20way mammalian rankscore : -
SiPhy 29way logOdds : -
SiPhy 29way logOdds rankscore : -
IndiGen Frequencies
  • Allele Count :    1125
  • Allele Frequency :    0.5488
  • Allele Number :    2050
  • Homozygous :    298
  • Heterozygous :    529
1000 Genome
All AFR AMR EAS SAS EUR
0.596246 0.5696 0.7233 0.5089 0.5419 0.6839

gnomAD
All AFR AMR EAS SAS AMI ASJ FIN NFE OTH
0.6516 0.5976 0.6988 0.5345 0.5646 0.7506 0.6373 0.7153 0.6753 0.6558

GME
All NWA NEA AP Israel SD TP CA
- - - - - - - -

Esp6500
All
-

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