Classification
Category 4
curation
CMH MAF
21 /
13812 samples
(0.152%)
21 het.,
0 hom.
(100%)
21 /
27624 total alleles
(0.076%)
Genes
gene: USH2A
synonym(s): dJ1111A8.1, RP39, US2, USH2, USH2A, ENSG00000042781
ENST00000307340.3
[intron]
Reportable
hgvs_c: ENST00000307340.3:c.4758+3A>G
splice impact: five_prime_flank
protein sequence:
ENSP00000305941.3
dbSNP
rs117798425
GMAF = 0.002796
TOPMED_MAF = 0.00191927879714576
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000116,0.000000,0.000077
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 8904 |
0% |
| America/Latino |
1 / 10360 |
0.00965% |
| East Asian |
141 / 7358 |
1.92% |
| Finnish |
0 / 6160 |
0% |
| Non-Finnish |
6 / 56674 |
0.0106% |
| Other |
0 / 822 |
0% |
| South Asian |
12 / 14804 |
0.0811% |
| Total MAF |
160 / 105082 |
0.152% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 24790 |
0% |
| America/Latino |
1 / 35266 |
0.00284% |
| Ashkenazi Jewish |
4 / 10338 |
0.0387% |
| East Asian |
365 / 19826 |
1.84% |
| Finnish |
1 / 25068 |
0.00399% |
| Non-Finnish |
26 / 128364 |
0.0203% |
| Other |
1 / 7172 |
0.0139% |
| South Asian |
24 / 30534 |
0.0786% |
| Korean |
64 / 3776 |
1.69% |
| Japanese |
2 / 152 |
1.32% |
| Other East Asian |
265 / 14338 |
1.85% |
| Bulgarian |
3 / 2658 |
0.113% |
| Estonian |
8 / 4832 |
0.166% |
| North-Western European |
2 / 50644 |
0.00395% |
| Southern European |
1 / 11528 |
0.00867% |
| Swedish |
4 / 25786 |
0.0155% |
| Other non-Finnish European |
8 / 32916 |
0.0243% |
| Total MAF |
422 / 281358 |
0.15% |
curated_classification = 4
Export Variant