rs10974944

A SNP in the INSL6 gene on chromosome 9. Its most notable genotype is G;G: 2 - 4 fold increased odds of V617F-associated MPNs

Gene
INSL6
Location
Chr 95,070,831 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
26%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.056% of people
  2. C;GBadIncreased odds (2 - 4 fold?) of V617F-associated MPNsWorth knowing · 2.539% of people
  3. G;GMost notableBad2 - 4 fold increased odds of V617F-associated MPNsImportant · 3.05% of people

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

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageC;C 56% C;G 39% G;G 5%
  • European ancestry (Utah)C;C 47% C;G 45% G;G 8%
  • Han Chinese (Beijing)C;C 57% C;G 36% G;G 7%
  • Japanese (Tokyo)C;C 55% C;G 39% G;G 6%
  • Yoruba (Nigeria)C;C 72% C;G 28% G;G 0%
  • African ancestry (Southwest US)C;C 61% C;G 37% G;G 2%
  • Chinese (Denver)C;C 51% C;G 45% G;G 4%
  • Gujarati IndianC;C 62% C;G 32% G;G 6%
  • Luhya (Kenya)C;C 66% C;G 29% G;G 5%
  • Mexican ancestry (Los Angeles)C;C 38% C;G 53% G;G 9%
  • Maasai (Kenya)C;C 53% C;G 44% G;G 3%
  • TuscanC;C 49% C;G 45% G;G 6%

Notes

From SNPedia

Notes

The following SNPs are (all) associated with the JAK2 46/1 haplotype that appears to predispose to V617F-positive neoplasms; since they are all part of one haplotype (and are not independent of one another), having one usually implies having the others as well. *rs12343867 *rs12340895 *rs3780374 *rs4495487 *rs10974944 Video about this mutation

Source and license

Adapted from rs10974944 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.