EDN1 K198N - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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EDN1 K198N

(EDN1 Lys198Asn)

Short summary

Associated with lower HDL cholesterol levels in women.

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.034
SIFT: Tolerated 0.19
GVGD: GV 56.87; GD 39.26; Class C0
Variant Effect Predictor (Ensembl):
Mutation Tasting Prediction: Polymorphism, P value: 0.999975
protein features (might be) affected (aa 74-212 PROPEP /FTId=PRO_0000008061 gets lost)

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr6:12296255: 20.6% (2220/10758) in EVS
  • T @ chr6:12404240: 19.5% (25/128) in GET-Evidence
  • Frequency shown in summary reports: 20.6% (2220/10758)


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PubMed PMID: 18794727




hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr6:12296255







hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr6:12296255




hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr6:12296255


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr6:12296255





huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr6:12296255


GS12004 - var-GS12004-1100-36-ASM
het T @ chr6:12404241


GS18504 - var-GS18504-1100-36-ASM
het T @ chr6:12404241


GS18537 - var-GS18537-1100-36-ASM
het T @ chr6:12404241


GS18555 - var-GS18555-1100-36-ASM
het T @ chr6:12404241


GS18940 - var-GS18940-1100-36-ASM
het T @ chr6:12404241


GS18956 - var-GS18956-1100-36-ASM
hom T @ chr6:12404241


GS19026 - var-GS19026-1100-36-ASM
het T @ chr6:12404241


GS19239 - var-GS19239-1100-36-ASM
het T @ chr6:12404241


GS19669 - var-GS19669-1100-36-ASM
het T @ chr6:12404241


GS19701 - var-GS19701-1100-36-ASM
het T @ chr6:12404241


GS20502 - var-GS20502-1100-36-ASM
het T @ chr6:12404241


GS21767 - var-GS21767-1100-36-ASM
het T @ chr6:12404241


Other external references

  • rs5370
  • [Diabetes Mellitus; Edema; Hyperlipidemias]
    The G/G (Lys/Lys) genotype of this SNP was associated with reduced risk of edema resulting from treatment with muraglitazar (BMS-298585) relative to the T/T (Asn/Asn) genotype. The test population consisted of patients with diabetes or hyperlipidemia.
  • Score: 0.002 (benign)

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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