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.
- C;CGoodcommon/normal
- C;GBadIncreased odds (2 - 4 fold?) of V617F-associated MPNs
- G;GMost notableBad2 - 4 fold increased odds of V617F-associated MPNs
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%
Related
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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.