Chr :
chr5
Position :
90629303
Ref Allele :
C
Alt Allele :
T
AAChange refGene :
ADGRV1:NM_032119:exon9:c.C1603T:p.R535X
UCSC :
chr5-90629303-C-T
OMIM :
ADGRV1
dbSNP :
rs746004086
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 : 0.804
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.858
Eigen PC raw : 0.665
GenoCanyon score : 0.586
GenoCanyon score rankscore : 0.216
integrated fitCons score : 0.651
integrated fitCons score rankscore : 0.465
integrated confidence value : 0
GERP++ RS : 2.48
GERP++_RS rankscore : 0.291
phyloP100way vertebrate : 3.62
phyloP100way vertebrate rankscore : 0.537
phyloP20way mammalian : 0.935
phyloP20way mammalian rankscore : 0.49
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.999
phastCons20way mammalian rankscore : 0.75
SiPhy 29way logOdds : 15.871
SiPhy 29way logOdds rankscore : 0.788
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2042
  • 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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