rs77375493
A SNP in the JAK2 gene on chromosome 9. Its most notable genotype is G;T: JAK2-V617F variant present
- Gene
- JAK2
- Location
- Chr 95,073,770 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 0%
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GGoodcommon in complete genomics
- G;TMost notableBadJAK2-V617F variant present
- T;TBadJAK2-V617F variant present
On SNPedia: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 140 words
rs77375493, also known as V617F or Val617Phe, is a variant considered to generally be acquired (i.e. somatic) in the Janus kinase 2 JAK2 gene. The wild-type (normal) allele is rs77375493(G), and the (very rare) variant allele is rs77375493(T). While the predictive medical consequences of having the variant in the absence of symptoms remain uncertain, this variant has been reported to be associated with several myeloproliferative disorders (basically, cancers of the blood), including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis, and it appears to be act in a dominant manner. See: OMIM 147796.0001. A participant in the PGP, John Lauerman, has published an article about his experiences upon finding out that he carried this variant. FTDNA & MyHeritage name: VG09S32163
G;T
See rs77375493 for discussion.
T;T
See rs77375493 for discussion.
Source and license
Adapted from rs77375493 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.