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Old 06-20-2018, 08:21 PM   #1
juhuvn
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Default How to get Risk Allele from ClinVar?

Given a ClinVar Pathogenic SNP
rs35269064 (NM_000050.4(ASS1):c.[323G>T];[970+5G>A] Compound heterozygote).

Link: https://www.ncbi.nlm.nih.gov/clinvar/variation/424822/

How do I identify the risk allele of this rsID?

Thank you in advance.
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Old 06-20-2018, 09:23 PM   #2
finswimmer
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Hello juhuvn,

what do you mean by "risk allele".

fin swimmer
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Old 06-21-2018, 01:01 AM   #3
juhuvn
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Quote:
Originally Posted by finswimmer View Post
Hello juhuvn,

what do you mean by "risk allele".

fin swimmer
Dear fin,

risk allele is the allele associated with a particular disease.

for example: rs35269064 G>T. if someone hold this T allele, he/she might be at risk of a disease.
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Old 06-21-2018, 01:43 AM   #4
finswimmer
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So you want to identify what base change is associated with the rs number?

Do you have a list of these identifiers, a vcf file, ...? How does your input look like?

Do you want a programmatically solution? How should your output look like?

fin swimmer
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