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rs71785313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 2.5 variant
(TTATAA;TTATAA) 0 common in complete genomics
Make rs71785313(-;TTATAA)
ReferenceGRCh38 38.1/142
Chromosome22
Position36266000
GeneAPOL1
is asnp
is mentioned by
dbSNPrs71785313
ebirs71785313
HLIrs71785313
Exacrs71785313
Varsomers71785313
Maprs71785313
PheGenIrs71785313
hapmaprs71785313
1000 genomesrs71785313
hgdprs71785313
ensemblrs71785313
gopubmedrs71785313
geneviewrs71785313
scholarrs71785313
googlers71785313
pharmgkbrs71785313
gwascentralrs71785313
openSNPrs71785313
23andMers71785313
23andMe allrs71785313
SNP Nexus

SNPshotrs71785313
SNPdbers71785313
MSV3drs71785313
GWAS Ctlgrs71785313
StatusDeleted
Max Magnitude2.5
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

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.

OMIM603743
DescAPOLIPOPROTEIN L-I; APOL1
Variant
Relatedalso
OMIM603743
Desc
Variant0002
Relatedalso
[PMID 22956460OA-icon.png] 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

ClinVar
Risk rs71785313(;)
Alt rs71785313(;)
Reference rs71785313(ATAATT;ATAATT)
Significance Other
Disease Focal segmental glomerulosclerosis 4
Variation info
Gene APOL1
CLNDBN Focal segmental glomerulosclerosis 4, susceptibility to
Reversed 0
HGVS NC_000022.10:g.36662046_36662051delTTATAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006454.3,