Examples of input data :
Gene
ADH1B
Chr:Region
4:100220000-100230000
Chr:Position
4:100239319
rsID
rs1229984
Search
We provided the annotation and frequency of each genetic variant in the genome:
Basic Informations
Chr
: Chromosome number
Position
: Genomic position
Ref
: Reference allele
Alt
: Alternative allele
ID
: rsID (dbSNP identifier)
Variant Quality Metrics
DP
VQSLOD
Functional Annotation
Gene
Function
mRNA_Transcipt
cDNA
Protein
Populations：frequency of the alternative allele
WBBC_AF
: WBBC
North_AF
: North China
Central_AF
: Central China
South_AF
: South China
Lingnan_AF
: Lingnan China
1000G_AF
: 1000 Genomes Project
Gnomad_AF
: GnomAD Project
Pathogenicity Predictions
SIFT
Polyphen2_HDIV
MutationTaster
Clinvar