Table 1.
Variant sites identified in African American or European American cases and controls.
| Predicted functional consequence |
African Americans | European Americans | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP | Position v37 | A1 | A2 | Class | Amino acid change |
S1 | PP2 | MA3 | FSGS/HIVAN (n=295) |
Controls (n=651) |
FSGS (n=169) |
Controls (n=322) |
| rs13056427 | 36,649,802 | T | C | Intron | - | - | - | - | 2.01 | 4.48 | 25.44 | 20.184 |
| rs4820224 | 36,653,275 | A | G | Intron | - | - | - | - | 2.01 | 4.19 | 11.44 | 12.394 |
| rs136163 | 36,657,628 | T | G | Intron | - | - | - | - | 1.94 | 5.18 | 21.86 | 19.574 |
| rs41297245 | 36,657,740 | T | C | NonSyn | G96R | T | B | N | 1.06 | 5.49 | 4.46 | 4.784 |
| rs136164 | 36,657,789 | A | G | Intron | - | - | - | - | 35.28 | 48.47 | 39.22 | 40.00 |
| rs136168 | 36,660,842 | G | A | Intron | - | - | - | - | 63.21 | 48.48 | 23.73 | 21.25 |
| chr22:36661148 C>T | 36,661,148 | T | C | Intron | - | - | - | - | 0.64 | 0.95 | 0.00 | 0.00 |
| rs136169 | 36,661,149 | A | G | Intron | - | - | - | - | 2.58 | 4.83 | 23.51 | 20.03 |
| rs28480494 | 36,661,152 | G | A | Intron | - | - | - | - | 2.58 | 4.74 | 23.51 | 20.03 |
| rs141898256 | 36,661,200 | C | T | Syn | N106N | - | - | - | 0.00 | 0.16 | 0.00 | 0.37 |
| rs2239785 | 36,661,330 | A | G | NonSyn | E150K | T | D | L | 11.30 | 35.71 | 77.27 | 79.15 |
| rs148296684 | 36,661,354 | T | C | NonSyn | L158F | T | D | M | 0.00 | 0.16 | 0.00 | 0.00 |
| rs116136671 | 36,661,409 | G | A | NonSyn | N176S | D | D | M | 1.54 | 5.16 | 0.30 | 0.00 |
| rs1508460725 | 36,661,455 | T | C | Syn | L191L | - | - | - | 0.00 | 0.08 | 0.00 | 0.00 |
| rs2017396096 | 36,661,518 | A | G | NonSyn | M212I | T | B | L | 0.00 | 0.00 | 0.00 | 0.16 |
| chr22:36661531 A>G7 | 36,661,531 | G | A | NonSyn | T217A | T | B | N | 0.18 | 0.00 | 0.00 | 0.00 |
| rs136174 | 36,661,536 | C | A | Syn | A218A | - | - | - | 2.90 | 5.30 | 22.62 | 20.50 |
| rs136175 (G3) | 36,661,566 | G | A | NonSyn | M228I | T | B | N | 2.90 | 5.30 | 22.62 | 20.40 |
| rs136176 (G3) | 36,661,646 | G | A | NonSyn | R255K | T | B | N | 2.47 | 4.72 | 22.16 | 20.66 |
| rs73885316 | 36,661,674 | A | C | NonSyn | N264K | T | PD | L | 0.35 | 2.38 | 0.00 | 0.00 |
| rs142955744 | 36,661,679 | G | T | NonSyn | L266R | D | D | L | 0.17 | 0.15 | 0.00 | 0.00 |
| rs73403889 | 36,661,691 | A | G | NonSyn | G270D | T | B | N | 0.00 | 0.24 | 0.00 | 0.00 |
| rs3692884148 | 36,661,745 | A | G | NonSyn | R288Q | T | B | N | 0.00 | 0.12 | 0.00 | 0.00 |
| rs141788376 | 36,661,791 | T | C | Syn | R303R | - | - | - | 0.27 | 0.12 | 0.00 | 0.00 |
| rs150588135 | 36,661,796 | A | G | NonSyn | R305Q | T | B | N | 0.00 | 0.35 | 0.00 | 0.00 |
| rs136177 | 36,661,842 | G | A | Syn | R320R | - | - | - | 3.18 | 7.16 | 22.92 | 20.56 |
| rs16996616 | 36,661,891 | A | G | NonSyn | D337N | D | B | N | 2.55 | 8.83 | 0.30 | 0.00 |
| rs73885319 (G1) | 36,661,906 | G | A | NonSyn | S342G | T | B | N | 54.10 | 21.81 | 0.00 | 0.00 |
| chr22:36661915 C>G7 | 36,661,915 | G | C | NonSyn | L345V | D | PD | M | 0.00 | 0.12 | 0.00 | 0.00 |
| rs60910145 (G1) | 36,662,034 | G | T | NonSyn | I384M | T | PD | N | 53.06 | 21.27 | 0.00 | 0.00 |
| rs71785313 (G2) | 36,662,046-51 | - | TTATAA | NonSyn | NYK388-389K | - | - | - | 25.42 | 13.13 | 0.00 | 0.00 |
| rs5751631644 | 36,662,425 | A | G | 3’UTR | - | - | - | - | 0.00 | 0.08 | 0.00 | 0.00 |
| rs5578099074 | 36,662,514 | T | C | 3’UTR | - | - | - | - | 0.17 | 0.00 | 0.00 | 0.00 |
The allelic frequencies are reported for the A1 allele in %.
1
SIFT: (T) Tolerated, (D) Deleterious
2
PolyPhen: (B) Benign, (PD) Possibly Damaging, (D) Damaging
3
Mutation Assessor: (N) Neutral, (L) Low, (M) Medium
4
Due to technical problems, we complemented our EA controls genotypic data with the 1000 Genomes EA data for these four SNPs
5
Singleton, also reported in the 1000 Genomes Project
6
Singleton, also reported in the ClinSeq project
7
Singleton
8
Singleton, also reported in the Exome Sequencing Project.