rs45575636

A SNP in the ABCB4 gene on chromosome 7. Its most notable genotype is T;T: possible connection to intrahepatic cholestasis of pregnancy

Gene
ABCB4
Location
Chr 787,431,528 (GRCh38)
Highest magnitude
2.8Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadpossible connection to intrahepatic cholestasis of pregnancyWorth knowing · 2.8
  2. C;TBadpossible connection to intrahepatic cholestasis of pregnancyWorth knowing · 2.2
  3. C;CGoodcommon in complete genomicsTypical · 0.0

SNPedia records rs45575636 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other ABCB4 SNPs

All ABCB4 SNPs

Notes

From SNPedia

Notes

rs45575636, also known as c.1769G>A, p.Arg590Gln and R590Q, represents a variant in the ABCB4 gene on chromosome 7. The clinical significance of the quite rare rs45575636(A) allele is reported as "uncertain" in ClinVar. This variant has been reported though to place a woman at between 2-fold to 16-fold higher risk for intrahepatic cholestasis of pregnancy, according to separate papers cited in OMIM 171060.0012.

T;T

see discussion at rs45575636

C;T

see discussion at rs45575636

Source and license

Adapted from rs45575636 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.