Chr :
chr16
Position :
56902446
Ref Allele :
G
Alt Allele :
T
AAChange refGene :
SLC12A3:NM_000339:exon24:c.G2821T:p.E941X,SLC12A3:NM_001126107:exon24:c.G2818T:p.E940X,SLC12A3:NM_001126108:exon24:c.G2794T:p.E932X
UCSC :
chr16-56902446-G-T
OMIM :
SLC12A3
dbSNP :
-
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 : Neutral
MutationTaster : Disease Causing Automatic
MutationAssessor : -
FATHMM : -
PROVEAN : -
VEST3 score : -
VEST3 rankscore : -
MetaSVM : -
MetaLR : -
M-CAP : -
REVEL score : -
REVEL rankscore : -
MutPred score : -
MutPred rankscore : -
CADD : 44
DANN score : 0.997
DANN rankscore : 0.811
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.791
Eigen PC raw : 0.635
GenoCanyon score : 0.998
GenoCanyon score rankscore : 0.365
integrated fitCons score : 0.516
integrated fitCons score rankscore : 0.203
integrated confidence value : 0
GERP++ RS : 5.07
GERP++_RS rankscore : 0.68
phyloP100way vertebrate : 5.725
phyloP100way vertebrate rankscore : 0.679
phyloP20way mammalian : 0.953
phyloP20way mammalian rankscore : 0.551
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.536
phastCons20way mammalian rankscore : 0.277
SiPhy 29way logOdds : 17.016
SiPhy 29way logOdds rankscore : 0.862
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2048
  • 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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