IndiGenomes Resource of Population Genomes from India|Gene:DNAH5|Variant:chr5:13841131:C:T

Gene : DNAH5

Chr :

chr5

Position :

13841131

Ref Allele :

Alt Allele :

AAChange refGene :

UCSC :

chr5-13841131-C-T

OMIM :

DNAH5

dbSNP :

Gene Function :

splicing

Exonic Function :

Clinical Annotations and Linkouts

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

Disease condition(s) :

Clinical significance :

Computation Prediction and Annotation

SIFT :	-
Polyphen2 HDIV :	-
Polyphen2 HVAR :	-
LRT :	-
MutationTaster :	Disease Causing
MutationAssessor :	-
FATHMM :	-
PROVEAN :	-
VEST3 score :	-
VEST3 rankscore :	-
MetaSVM :	-
MetaLR :	-
M-CAP :	-
REVEL score :	-
REVEL rankscore :	-
MutPred score :	-
MutPred rankscore :	-
CADD :	25.8
DANN score :	0.995
DANN rankscore :	0.684
fathmm MKL coding :	D
Eigen coding or noncoding :	c
Eigen raw :	1.193
Eigen PC raw :	1.049
GenoCanyon score :	1
GenoCanyon score rankscore :	0.747
integrated fitCons score :	0.061
integrated fitCons score rankscore :	0.009
integrated confidence value :	0
GERP++ RS :	5.77
GERP++_RS rankscore :	0.91
phyloP100way vertebrate :	7.879
phyloP100way vertebrate rankscore :	0.856
phyloP20way mammalian :	0.935
phyloP20way mammalian rankscore :	0.49
phastCons100way vertebrate :	1
phastCons100way vertebrate rankscore :	0.715
phastCons20way mammalian :	0.953
phastCons20way mammalian rankscore :	0.43
SiPhy 29way logOdds :	18.986
SiPhy 29way logOdds rankscore :	0.927

IndiGen Allele Frequency

IndiGen Frequencies

Allele Count : 1
Allele Frequency : 0.0005
Allele Number : 2044
Homozygous : 0
Heterozygous : 1

Global Allele Frequencies

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
-

Update on Clinical Annotations

If you would like to be updated on the classification of the variant as per the ACMG & AMP guidelines, please access and share the phenotypes after login.

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This resource is intended for purely research purposes. It should not be used for emergencies or medical or professional advice.

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