Question: Question about id columns in gnomAD
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gravatar for Titus
2.5 years ago by
Titus910
Titus910 wrote:

Hi,

When i look at this variant in gnomAD vcf file (i skipped extra columns) :

#CHROM  POS ID  REF ALT
17  41245090    rs56082113  TG  CG,T

First think this can be translate in 2 variants : SNV T>C and a deletion of G. Am I right ?

Second , that's mean dbSNP rs56082113 is associated to this 2 variants, i checked in http://gnomad.broadinstitute.org/ by entering 17-41245090-T-C and 17-41245090-TG-T and in the 2 cases i got the dbSNP rs56082113 links : https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=rs56082113. The think is when i look the the NM consequences i see only SNV (>) and no deletion of G is it normal ? Is the rs is in fact associate only to the SNV variant ?

thanks ,

Tristan

snp • 979 views
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