rs104894678

A SNP in the ETFB gene on chromosome 19. Its most notable genotype is C;T: Carrier of a glutaric acidemia IIB (MADD) mutation

Gene
ETFB
Location
Chr 1951,350,385 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadCarrier of a glutaric acidemia IIB (MADD) mutationImportant · 3.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs104894678 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other ETFB SNPs

All ETFB SNPs

Notes

From SNPedia

Notes

aka c.382G>A (p.Asp128Asn or D128N)

C;T

Unaffected in absence of a second ETFB gene mutation

Source and license

Adapted from rs104894678 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.