rs1483165002

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

Gene
IGHMBP2
Location
Chr 1168,935,396 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;TMost notableBadCarrier of an IGHMBP2-associated disorderImportant · 3.0
  2. T;TGoodcommon/normalTypical · 0.0

On SNPedia: (C;T), (T;T). 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.1730T>C (p.Leu577Pro or L577P) Reported by UDN (and others) as pathogenic, when inherited recessively, for an IGHMBP2-gene disorder, with similarities to Charcot-Marie-Tooth disease type 2S.

C;T

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

Source and license

Adapted from rs1483165002 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.