rs904520404
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This condition is a renal-hepatic ciliopathy with phenotypic characteristics that include hepatosplenomegaly, hepatic fibrosis with bile cholestasis, increased kidney echogenicity, and end-stage renal disease.Here, we report a 13-year-old African-Caribbean female with areas of absence of heterozygosity suggesting parental consanguinity or identity by decent due to the founder effect, harboring a novel homozygous pathogenic variant (c.383C>G, p.S128*) in exon 3 of DCDC2.
|
31821705 |
2020 |
rs9395890
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings indicate that rs9395890 is associated with susceptibility to ESRD in Taiwan population.
|
31382928 |
2019 |
rs12513649
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CREBRF rs12513649 and rs373863828 were genotyped in 2022 participants in a community-based cross-sectional study designed to identify determinants of diabetes and end-stage renal disease (ESRD).
|
31280340 |
2019 |
rs373863828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CREBRF rs12513649 and rs373863828 were genotyped in 2022 participants in a community-based cross-sectional study designed to identify determinants of diabetes and end-stage renal disease (ESRD).
|
31280340 |
2019 |
rs73885319
|
|
G |
0.720 |
GeneticVariation |
GWASCAT |
Several variants at the <i>APOL1</i> locus were associated with ESKD including the <i>APOL1</i> G1 rs73885319 (<i>p</i> = 1.2 × 10<sup>-9</sup>).
|
31178898 |
2019 |
rs73885319
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Several variants at the <i>APOL1</i> locus were associated with ESKD including the <i>APOL1</i> G1 rs73885319 (<i>p</i> = 1.2 × 10<sup>-9</sup>).
|
31178898 |
2019 |
rs10906850
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs112407915
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs114425659
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs115007604
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs115747230
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs11645800
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs116510623
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs117329947
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs12032578
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs12963285
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs138572244
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs138873021
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs144210385
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs146639727
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs147084429
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs183951714
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs186208070
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs187652497
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |
rs191540116
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.
|
31178898 |
2019 |