rs199476100

A SNP in the PKD1 gene on chromosome 16. Its most notable genotype is A;G: Polycystic Kidney Disease (predicted)

Gene
PKD1
Location
Chr 162,114,489 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GBadLikely miscall if from Ancestry data; otherwise, polycystic kidney disease mutation(s)Important · 3.0
  2. A;GMost notableBadPolycystic Kidney Disease (predicted)Very important · 5.0
  3. A;AGoodcommon in clinvarTypical · 0.0

SNPedia records rs199476100 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other PKD1 SNPs

All PKD1 SNPs

Notes

From SNPedia

Notes

Polycystic Kidney disease; see OMIM 601313.0012 NM_001009944.2:c.2534T>C The variant allele of this SNP is considered either "definitely pathogenic" or "highly likely pathogenic" for autosomal dominant polycystic kidney disease in the PKD Foundation database.

G;G

Seen too often in Ancestry v2 data compared to reported frequency worldwide, so likely to be a miscall in data from Ancestry. If your data is not from Ancestry, let us know.

Source and license

Adapted from rs199476100 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.