rs786201005

A SNP in the ISG15 gene on chromosome 1. Its most notable genotype is C;T: Carrier of an immunodeficiency mutation

Gene
ISG15
Location
Chr 11,014,143 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadCarrier of an immunodeficiency mutationImportant · 3.0
  3. T;TBadCauses a lack of ISG15 which in turn causes basal ganglia calcification, auto-inflammation and susceptibility to mycobacterial diseaseImportant · 3.0

On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other ISG15 SNPs

All ISG15 SNPs

Notes

From SNPedia

Show notes, about 130 words

C;T

Unaffected in absence of a second mutation in the ISG15 gene

T;T

This genotype causes a lack of ISG15. This can cause a number of issues such as calcium deposits forming in the basal ganglia, a central part of the brain. However, this has not been shown to cause any mental defects. This genotype also causes auto-inflammation of the IFNA/IFNB interferon's which can lead to other diseases. Finally, this genotype also makes the individual more prone to mycobacterial diseases such as tuberculosis and leprosy. Lymphadenopathy also occurs after the BCG vaccination, a common vaccination to treat tuberculosis. The one potential positive is that the increased production of IFNA/IFNB leads to increased immunity to viruses the interferon provides immunity to.

Source and license

Adapted from rs786201005 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.