Geno
|
Mag
|
Summary
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(-;-)
|
5.5
|
~6x higher risk for end-stage renal disease
|
(-;TTATAA)
|
4.5
|
~3x higher risk for end-stage renal disease
|
(TTATAA;TTATAA)
|
0
|
common in complete genomics
|
The derived allele of indel rs71785313 (p.NYK388K) defines the APOL1 G2 allele. This allele has been shown to associate with kidney disease while conferring protection against Trypanosoma brucei rhodesiense. 10.1126/science.1193032
SNP rs143830837, a term used in some older literature, is identical to rs71785313 and was merged into it by dbSNP.
gs329 represents "double heterozygotes".
Nearby variant rs12106505 is almost a complete proxy (r2>95%), so it can be used as an alternative for genotyping, especially in cases where the technology does not work well with indels.
[PMID 22956460] Genetic variation in APOL1 and MYH9 genes is associated with chronic kidney disease among Nigerians.
[PMID 25921719] APOL1 Genotype and Glomerular and Tubular Kidney Injury in Women With HIV
[PMID 32354559] Association of Genetic Polymorphisms of TGF-β1, HMOX1, and APOL1 With CKD in Nigerian Patients With and Without HIV.