PopViz-2

[ Supporting gnomAD r2.1.1 and CADD v1.3/v1.4/v1.5 ]
 
Integrative and interactive visualization of population genetics and mutation damage prediction scores of human gene variants
 
REFERENCE: P. Zhang, et al. PopViz Webserver. Bioinformatics, 2018

Search Options


Human Reference Genome:
GRCh37 / hg19
GRCh38 / hg38

CADD Score:
CADD v1.3 (for GRCh37 only)
CADD v1.4 (for GRCh37 and GRCh38)
CADD v1.5 (for GRCh38 only)

MAF (Minor Allele Frequency):
General
Maximum

Population:
General
AFR: African / African American
AMR: Admixed American / Latino
ASJ: Ashkenazi Jewish
EAS: East Asian
FIN: Finnish
NFE: Non-Finnish European
SAS: South Asian

Mutation Consequence:
All
3-UTR
5-UTR
Frameshift
Inframe Deletion
Inframe Insertion
Intronic
Missense
Splice Acceptor
Splice Donor
Splice Region
Start Lost
Stop Gained
Stop Lost
Synonymous

Mutation Impact: All High Moderate Modifier Low

Loss of Function: All High-Confidence Low-Confidence

Only variants in more than 1 individual (AC > 1)

Only variants having homozygous alleles (HOM > 1)

Disease Information:
Mode of Inheritance: AD AR
Disease Prevalence: (in decimal)
User's Mutations? No Yes

Please provide the first 5 columns (CHROM, POS, ID, REF, ALT) of the mutations in VCF format. If no ID, fill it by a dot.

It's now required to provide the computed CADD scores in the 6th column. Please be consistent with the CADD version.


Developer| Peng ZHANG (Ph.D.)

Artwork| Zhou YANG (B.A.)

Development Team| Yuval ITAN (Ph.D.), Bertrand BOISSON (Ph.D.), Laurent ABEL (Ph.D.)

Lab Head| Jean-Laurent CASANOVA (M.D., Ph.D.)

Lab| St. Giles Laboratory of Human Genetics of Infectious Diseases

Address| 1230 York Avenue, New York, NY 10065, USA

Last Update| Oct 01, 2019

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