IndiGenomes Resource of Population Genomes from India|Gene:COL6A2|Variant:chr21:46119852:T:C

Gene : COL6A2

Chr :

chr21

Position :

46119852

Ref Allele :

Alt Allele :

AAChange refGene :

UCSC :

chr21-46119852-T-C

OMIM :

COL6A2

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 :	23.8
DANN score :	0.994
DANN rankscore :	0.625
fathmm MKL coding :	D
Eigen coding or noncoding :	c
Eigen raw :	0.894
Eigen PC raw :	0.7
GenoCanyon score :	1
GenoCanyon score rankscore :	0.747
integrated fitCons score :	0.091
integrated fitCons score rankscore :	0.019
integrated confidence value :	0
GERP++ RS :	4.86
GERP++_RS rankscore :	0.625
phyloP100way vertebrate :	3.711
phyloP100way vertebrate rankscore :	0.543
phyloP20way mammalian :	1.011
phyloP20way mammalian rankscore :	0.635
phastCons100way vertebrate :	1
phastCons100way vertebrate rankscore :	0.715
phastCons20way mammalian :	0.812
phastCons20way mammalian rankscore :	0.34
SiPhy 29way logOdds :	12.211
SiPhy 29way logOdds rankscore :	0.535

IndiGen Allele Frequency

IndiGen Frequencies

Allele Count : 1
Allele Frequency : 0.0005
Allele Number : 2040
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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