rs1000597
A SNP on chromosome 7. Its most notable genotype is T;T: common in complete genomics
- Gene
- None listed
- Location
- Chr 730,897,563 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 12%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableGoodcommon in complete genomics
- C;TBad1.22x risk of kidney stone in Japanese
- C;CBad1.22x risk of kidney stone in Japanese
SNPedia records rs1000597 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.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageT;T 69% C;T 26% C;C 4%
- European ancestry (Utah)T;T 81% C;T 19% C;C 0%
- Han Chinese (Beijing)T;T 75% C;T 23% C;C 2%
- Japanese (Tokyo)T;T 69% C;T 28% C;C 3%
- Yoruba (Nigeria)T;T 57% C;T 36% C;C 7%
- African ancestry (Southwest US)T;T 63% C;T 32% C;C 5%
- Chinese (Denver)T;T 77% C;T 22% C;C <1%
- Gujarati IndianT;T 64% C;T 28% C;C 8%
- Luhya (Kenya)T;T 56% C;T 32% C;C 12%
- Mexican ancestry (Los Angeles)T;T 85% C;T 16% C;C 0%
- Maasai (Kenya)T;T 51% C;T 39% C;C 11%
- TuscanT;T 85% C;T 14% C;C 1%
Notes
From SNPedia
Show notes, about 130 words
Nephrolithiasis is a common nephrologic disorder with complex etiology. To identify the genetic factor(s) for nephrolithiasis, we conducted a three-stage genome-wide association study (GWAS) using a total of 5,892 nephrolithiasis cases and 17,809 controls of Japanese origin. Here we found three novel loci for nephrolithiasis: RGS14-SLC34A1-PFN3-F12 on 5q35.3 (rs11746443; P = 8.51×10−12, odds ratio (OR) = 1.19), INMT-FAM188B-AQP1 on 7p14.3 (rs1000597; P = 2.16×10−14, OR = 1.22), and DGKH on 13q14.1 (rs4142110; P = 4.62×10−9, OR = 1.14). Subsequent analyses in 21,842 Japanese subjects revealed the association of SNP rs11746443 with the reduction of estimated glomerular filtration rate (eGFR) (P = 6.54×10−8), suggesting a crucial role for this variation in renal function.
Source and license
Adapted from rs1000597 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.