Chr :
chr12
Position :
55469440
Ref Allele :
C
Alt Allele :
G
AAChange refGene :
OR6C70:NM_001005499:exon1:c.G699C:p.K233N
UCSC :
chr12-55469440-C-G
OMIM :
OR6C70
dbSNP :
rs60683621
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
-
Clinical significance :
-
SIFT : Deleterious
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Neutral
MutationTaster : Polymorphism Automatic
MutationAssessor : Medium
FATHMM : Tolerated
PROVEAN : D
VEST3 score : 0.042
VEST3 rankscore : 0.022
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : -
REVEL score : 0.071
REVEL rankscore : 0.212
MutPred score : -
MutPred rankscore : -
CADD : 7.965
DANN score : 0.824
DANN rankscore : 0.137
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : -1.33
Eigen PC raw : -1.502
GenoCanyon score : 0.003
GenoCanyon score rankscore : 0.1
integrated fitCons score : 0.487
integrated fitCons score rankscore : 0.133
integrated confidence value : 0
GERP++ RS : -5.23
GERP++_RS rankscore : 0.026
phyloP100way vertebrate : -2.213
phyloP100way vertebrate rankscore : 0.013
phyloP20way mammalian : -1.418
phyloP20way mammalian rankscore : 0.012
phastCons100way vertebrate : 0
phastCons100way vertebrate rankscore : 0.063
phastCons20way mammalian : 0
phastCons20way mammalian rankscore : 0.016
SiPhy 29way logOdds : 6.995
SiPhy 29way logOdds rankscore : 0.238
IndiGen Frequencies
  • Allele Count :    392
  • Allele Frequency :    0.1914
  • Allele Number :    2048
  • Homozygous :    44
  • Heterozygous :    304
1000 Genome
All AFR AMR EAS SAS EUR
0.26278 0.2133 0.1945 0.4911 0.2157 0.1918
gnomAD
All AFR AMR EAS SAS AMI ASJ FIN NFE OTH
0.2119 0.2083 0.2109 0.5211 0.1816 0.1956 0.2617 0.1598 0.2063 0.2328
GME
All NWA NEA AP Israel SD TP CA
0.305136 0.30303 0.302989 0.423977 0.3 0.301724 0.277439 0.185606
Esp6500
All
0.2112

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