How to get Risk Allele from ClinVar?

[juhuvn]

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.

[finswimmer]

Hello juhuvn,

what do you mean by "risk allele".

fin swimmer

[juhuvn]

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.

[finswimmer]

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