Classification
Category 3
five_prime_flank
CMH MAF
51 /
11988 samples
(0.425%)
50 het.,
1 hom.
(98%)
52 /
23976 total alleles
(0.217%)
Genes
gene: DVL1
synonym(s): DVL, DVL1L1, DVL1P1, DVL1, ENSG00000107404
NM_004421.2
[intron]
Reportable
hgvs_c: NM_004421.2:c.605+6_605+7del
splice impact: five_prime_flank
protein sequence:
NP_004412.2
dbSNP
rs573517540
GMAF = 0.004992
TOPMED_MAF = 0.00610824413863404
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.001213,0.021586,0.008155
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
183 / 9986 |
1.83% |
| America/Latino |
15 / 11328 |
0.132% |
| East Asian |
0 / 8560 |
0% |
| Finnish |
0 / 6296 |
0% |
| Non-Finnish |
4 / 63566 |
0.00629% |
| Other |
0 / 830 |
0% |
| South Asian |
0 / 13526 |
0% |
| Total MAF |
202 / 114092 |
0.177% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
460 / 24782 |
1.86% |
| America/Latino |
33 / 35108 |
0.094% |
| Ashkenazi Jewish |
0 / 10008 |
0% |
| East Asian |
0 / 19866 |
0% |
| Finnish |
0 / 24874 |
0% |
| Non-Finnish |
11 / 125598 |
0.00876% |
| Other |
5 / 7098 |
0.0704% |
| South Asian |
0 / 30006 |
0% |
| Korean |
0 / 3814 |
0% |
| Japanese |
0 / 150 |
0% |
| Other East Asian |
0 / 14342 |
0% |
| Bulgarian |
0 / 2640 |
0% |
| Estonian |
0 / 4822 |
0% |
| North-Western European |
3 / 48852 |
0.00614% |
| Southern European |
5 / 11426 |
0.0438% |
| Swedish |
0 / 25962 |
0% |
| Other non-Finnish European |
3 / 31896 |
0.00941% |
| Total MAF |
509 / 277340 |
0.184% |
Export Variant