rs398124484
A SNP in the PKHD1 gene on chromosome 6. Its most notable genotype is C;C: Polycystic kidney disease
- Gene
- PKHD1
- Location
- Chr 652,026,048 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- CC;CCGoodcommon in clinvar
- C;CCBadcarrier of a polycystic kidney disease allele
- C;CMost notableBadPolycystic kidney disease
SNPedia records rs398124484 on the minus strand: (CC;CC), (CC;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PKHD1 SNPs
- rs368263958A;AAutosomal recessive polycystic kidney diseaseVery important
- i5000044A;Apolycystic kidney diseaseVery important
- i5000046A;APolycystic kidney diseaseVery important
- rs28937907A;Apossible polycystic kidney diseaseVery important
- rs28939383A;APolycystic kidney diseaseVery important
- rs137852944A;APolycystic kidney diseaseVery important
- rs137852946T;Tpossible polycystic kidney diseaseVery important
- rs137852949A;APolycystic Kidney diseaseVery important
Notes
From SNPedia
Notes
rs398124484, also known as c.3761_3762del insG or p.Ala1254fs, is a SNP in the PKHD1 gene on chromosome 6. The risk allele, rs398124484(G), is considered causative for autosomal recessive Polycystic kidney disease.
C;CC
see discussion at rs398124484
C;C
see discussion at rs398124484
Source and license
Adapted from rs398124484 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.