rs112029328

A SNP in the LDLR gene on chromosome 19. Its most notable genotype is A;G: Familial Hypercholesterolemia

Gene
LDLR
Location
Chr 1911,102,787 (GRCh38)
Highest magnitude
5.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ABaddominant mutation leading to Familial HypercholesterolemiaVery important · 4.0
  2. A;GMost notableBadFamilial HypercholesterolemiaVery important · 5.0
  3. C;GBadFamilial HypercholesterolemiaVery important · 5.0
  4. G;GGoodcommon in complete genomicsTypical · 0.0
  5. G;TBadFamilial HypercholesterolemiaVery important · 5.0

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

Conditions, medicines and genes

Other LDLR SNPs

All LDLR SNPs

Notes

From SNPedia

Notes

The A allele of this SNP in the low density lipoprotein receptor (LDLR) gene, which is a dominant mutation that provokes a skip of exon 3, leads to a form of familial hypercholesterolemia that appears to be the same as FH Elverum (see OMIM 606945.0054). Another mutation at this SNP changes the normal G to a T; this is also associated with familial hypercholesterolemia. These mutations are also known as c.313+1G>A and c.313+1G>T.

Source and license

Adapted from rs112029328 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.