rs1202430946

A SNP in the IGHMBP2 gene on chromosome 11. Its most notable genotype is A;C: Carrier of an IGHMBP2-gene mutation

Gene
IGHMBP2
Location
Chr 1168,930,251 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;CMost notableBadCarrier of an IGHMBP2-gene mutationImportant · 3.0
  2. C;CGoodcommon/normalTypical · 0.0

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

Other IGHMBP2 SNPs

All IGHMBP2 SNPs

Notes

From SNPedia

Notes

aka c.1235+894C>A Considered by the UDN to be, when recessively inherited, pathogenic for an IGHMBP2-associated condition with similarities to Charcot-Marie-Tooth disease type 2S.

A;C

Unaffected in absence of a second IGHMBP2 gene mutation; see text on main rs-page

Source and license

Adapted from rs1202430946 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.