dbSNP variant missing from UCSC dbSNP 147 track
Tam, Oliver
Dear Genome Browser team,
I was looking for a variant at the splice donor of PMS2 (chr7:6017218, G>T [cDNA], C>A [genomic]), and noticed on the UCSC genome browser that, while there was a entry in the ClinVar track, there is no corresponding entry in the dbSNP (147) track (see screenshot 1). I then clicked the ClinVar entry (screenshot 2), and found the dbSNP entry (876661113), which I could click to access it. I was just surprised to not see it in the all SNPs (147) and Flagged SNPs (147) tracks, and was wondering if it is not displaying properly on my end.
I also tried to access the ClinVar variation report from screenshot 2. It redirected me to this URL (http://www.ncbi.nlm.nih.gov/clinvar/variation/231656/), which is a different variant (screenshot 3). However, if I click on the ClinVar Allele submission links, they link to the correct submission, which then allowed me to go to the correct ClinVar page (http://www.ncbi.nlm.nih.gov/clinvar/variation/234604) (screenshot 4). I’m wondering if there’s something on my end that’s causing this error.
Please let me know if there are any questions or confusion, or if you cannot replicate my issue.
Thanks for all your help.
Cheers,
Oliver
Screenshot 1
Screenshot 2
Screenshot 3
Screenshot 4
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Tam, Oliver
Dear Genome Browser team,
I forgot to clarify that I’m using the hg19/GRCh37 build of the human genome.
Thanks.
Cheers,
Oliver
Luvina Guruvadoo
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