R1a-M420 - 2.3%
Для сравнения - R1b в их базе 77%
В каком формате вводятся данные по снипу в окне поиска?
UPD
HLI Search allows multiple types of searches, including keywords, operators, genomic coordinate and gene searches. Users can combine multiple syntaxes into a query. All contents (in the window below) are searchable. Keywords are case-insensitive.
Rule on using the operators: e.g. '+' needs to be places in front of other operators. Example: pathogenic + dm MYH7 missense af<0.1% is interpreted as: Pathogenic 'OR' DM variants 'AND' in MYH7 gene 'AND' missense as variant type 'AND' with allele frequency less than 0.1%
Operator Definition
+ or (union)
- but not
< less than
> greater than
space and (intersection)
rs123 all variants tagged with rsID
hgmd all variants in HGMD
clinvar all variants in ClinVar
pgmd all variants in PGMD
pathogenic pathogenic or likely pathogenic variants in ClinVar
benign benign or likely benign variants in ClinVar
disease any disease terms (e.g. parkinson)
condition any condition terms (e.g. hyperthermia)
drug any medications (e.g. warfarin)
gene any HGNC symbol (e.g. MYH7)
any c.hgvs HGVS nomenclature on the nucleotide level (e.g. c.5159G>A)
any p.hgvs HGVS nomenclature on the protein level (e.g.p.ARg1720Gln)
CPRA chromosome:position:reference:alternative (e.g. chr17:43063930:AC:T)
region Genomic region (e.g. chr17:7173431-7179564)
missense all variants with variant type missense
stopgain all variants with variant type stopgain
stoploss all variants with variant type stoploss
startloss all variants with variant type startloss
inframe all variants with variant type inframe
frameshift all variants with variant type frameshift
splice all variants with variant type splice
donor all variants with variant type donor
acceptor all variants with variant type acceptor
upstream all variants with variant type upstream
downstream all variants with variant type downstream
3utr all variants with variant type 3utr
af allele frequency
genes an advanced operator to prioritize genes/variants for disease