rs200179145
A SNP in the PKHD1 gene on chromosome 6. Its most notable genotype is T;T: Polycystic kidney disease
- Gene
- PKHD1
- Location
- Chr 651,903,601 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;TBadcarrier of an autosomal recessive polycystic kidney disease mutation
- T;TMost notableBadPolycystic kidney disease
On SNPedia: (A;A), (A;T), (T;T). 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
rs200179145, also known as c.6992T>A, p.Ile2331Lys or I2331K, is a SNP in the PKHD1 gene on chromosome 6. The risk allele, rs200179145(A), is considered causative for autosomal recessive Polycystic kidney disease. This SNP is referred to as i6016629 by 23andMe.
A;T
see PKHD1 see discussion at rs200179145
T;T
see discussion at rs200179145
Source and license
Adapted from rs200179145 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.