rs5370
A SNP in the EDN1 gene on chromosome 6. Its most notable genotype is G;T: possibly lower HDL cholesterol in women
- Gene
- EDN1
- Location
- Chr 612,296,022 (GRCh38)
- Highest magnitude
- 1.2Minor
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 21%
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GNot ratedcommon
- G;TMost notableBadpossibly lower HDL cholesterol in women
- T;TBadpossibly lower HDL cholesterol in women
On SNPedia: (G;G), (G;T), (T;T). 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.
- AverageG;G 60% G;T 34% T;T 6%
- European ancestry (Utah)G;G 63% G;T 30% T;T 7%
- Han Chinese (Beijing)G;G 51% G;T 40% T;T 9%
- Japanese (Tokyo)G;G 52% G;T 43% T;T 5%
- Yoruba (Nigeria)G;G 66% G;T 31% T;T 3%
- African ancestry (Southwest US)G;G 72% G;T 28% T;T 0%
- Chinese (Denver)G;G 54% G;T 38% T;T 8%
- Gujarati IndianG;G 31% G;T 46% T;T 24%
- Luhya (Kenya)G;G 77% G;T 23% T;T 0%
- Mexican ancestry (Los Angeles)G;G 69% G;T 28% T;T 3%
- Maasai (Kenya)G;G 65% G;T 31% T;T 3%
- TuscanG;G 61% G;T 36% T;T 3%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 340 words
rs5370, also known as Lys198Asn or K198N, is a SNP in the endothelin-1 EDN1 gene on chromosome 6. The generally more common rs5370(G) allele encodes the Lys (K), and the rarer rs5370(T) allele encodes the Asn (N). Among the French-Canadian founder population of the Saguenay Lac St-Jean region of Quebec, rs5370(T) was associated with lower HDL cholesterol values in women (p = 1.3 x 10e-5), but not in men. In a study of 1,000+ Western Australians, no association was seen between HDL levels and rs5370. A study of ~400 rheumatoid arthritis patients found a 3x increase in the adjusted odds of being hypertensive for rs5370(T;T) homozygotes compared to (G;G) homozygotes (odds ratio 2.89, CI: 1.02 - 8.19, p=0.011). After adjustment for multiple potential confounders, haplotype analysis revealed an additive effect of the rs1800541-rs5370 T-T haplotype on hypertension (OR = 2.96, CI: 1.28 - 6.86; p = .011), systolic blood pressure (SBP) (beta = 6.75 +/- 2.57 mm Hg; p = .009), and pulse pressure (PP) (beta = 4.37 +/- 2.12 mm Hg; p = .040) rs2368564 and rs5370 reduced risk of edema (P=0.003 and P=0.028, respectively). rs1801253 with increased susceptibility to edema (P=0.034) rs5370(T;T) genotypes were the factor most significantly associated with reduced risk of diabetic retinopathy (odds ratio = 0.19, CI: 0.07-0.53; p=0.002) and with later onset of type-2 diabetes ((T;T): 59 years; (G;G) and (G;T): 53 years; p=0.02), in a Chinese population of diabetics. High Blood Pressure (Hypertension)
G;T
One report indicates that women (but not men) with this genotype may have slightly lower levels of HDL cholesterol, but other reports have not observed this.
T;T
One report indicates that women (but not men) with this genotype may have slightly lower levels of HDL cholesterol, but other reports have not observed this. Other observations for this genotype include possibly higher risk for hypertension if you have rheumatoid arthritis, whereas on the other hand, if you are a diabetic, your disease onset may be later and your odds of diabetic retinopathy may be lower.
Source and license
Adapted from rs5370 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.