rs148636776

A SNP in the SH2B3 gene on chromosome 12. Its most notable genotype is A;G: Possible association with thrombocythemia

Gene
SH2B3
Location
Chr 12111,447,491 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadPossible association with thrombocythemiaImportant · 3.0
  2. G;GGoodcommon/normalTypical · 0.0

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

Other SH2B3 SNPs

All SH2B3 SNPs

Notes

From SNPedia

Notes

aka E395K Based on ACMG guidelines, originally classified as of "uncertain status" for familial erythrocytosis type 1 and essential thrombocythemia, ; in , this variant appears to have some effect (see paper for discussion) and so it is denoted as pathogenic.

A;G

see discussion and links via main rs-page

Source and license

Adapted from rs148636776 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.