WGLab / doc-ANNOVAR

Documentation for the ANNOVAR software
http://annovar.openbioinformatics.org
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the same mutations have two different rs #32

Closed wittying closed 6 years ago

wittying commented 6 years ago
  1. the same mutaions have two different rsID in hg19_avsnp150.txt. for example: 1 10352 10352 T TA rs145072688 1 10352 10352 T TA rs555500075
  2. I search rs145072688 and rs555500075 in dbsnp database: rs555500075 means 1:10352:T:TA rs145072688 means 1:10353:A:AC
  3. dbSNP's own VCF file: ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606_b150_GRCh37p13/VCF/All_20170710.vcf.gz has this problem. but ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606_b151_GRCh37p13/All_20180423.vcf.gz has no this problem. Could you please update the avsnp to v151? thank you very much!
kaichop commented 6 years ago

There is nothing wrong with it. rsid is not identifiable and should never be used in any genetic analysis in variant. It is at most a locus identifier and I write an article specifically about it in annovar website.

On May 19, 2018, at 6:57 AM, wittying notifications@github.com wrote:

the same mutaions have two different rsID in hg19_avsnp150.txt. for example: 1 10352 10352 T TA rs145072688 1 10352 10352 T TA rs555500075 I search rs145072688 and rs555500075 in dbsnp database: rs555500075 means 1:10352:T:TA rs145072688 means 1:10353:A:AC dbSNP's own VCF file: ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606_b150_GRCh37p13/VCF/All_20170710.vcf.gz has this problem. but ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606_b151_GRCh37p13/All_20180423.vcf.gz has no this problem. Could you please update the avsnp to v151? thank you very much! — You are receiving this because you are subscribed to this thread. Reply to this email directly, view it on GitHub, or mute the thread.