rs12343867
A SNP in the INSL6 gene on chromosome 9. Its most notable genotype is C;C: 2 - 4 fold increased odds of developing V617F-associated MPNs
- Gene
- INSL6
- Location
- Chr 95,074,189 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
- Minor allele frequency
- 26%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBad2 - 4 fold increased odds of developing V617F-associated MPNs
- C;TBadIncreased odds (2 fold?) of V617F-associated MPNs
- T;TGoodcommon/normal
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 3 HapMap populations.
- AverageC;C 6% C;T 44% T;T 51%
- European ancestry (Utah)C;C 8% C;T 47% T;T 45%
- Han Chinese (Beijing)C;C 7% C;T 32% T;T 61%
- Japanese (Tokyo)C;C 2% C;T 52% T;T 45%
Related
Notes
From SNPedia
Show notes, about 280 words
23andMe blog At rs12340895(G) (equivalent to rs12343867 in the study) had nearly four times higher odds of developing V617F-positive MPN compared to people without the disease. 23andMe recently replicated this association, though we see a smaller effect — in our database, people with a G at rs12340895 have about two times the odds of developing V617F-positive MPN compared to people without the disease. n A at rs3780374 in the JAK2 gene (equivalent to rs4495487 reported in the study and highly correlated with rs12343867) have about three times higher odds of developing V617F-positive MPN compared to individuals without the A version. 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 The JAK2 46/1 haplotype confers susceptibility to essential thrombocythemia regardless of JAK2V617F mutational status-clinical correlates in a study of 226 consecutive patients. The JAK2 rs12343867 CC genotype frequently occurs in patients with splanchnic venous thrombosis without the JAK2V617F mutation: a retrospective study. The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms. JAK2V617F mutation is associated with special alleles in essential thrombocythemia. The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis. Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis.
Source and license
Adapted from rs12343867 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.