Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854529
rs137854529
ANO5
3 0.882 0.200 11 22274605 missense variant C/T snv 5.8E-04 4.8E-04 0.800 1.000 2 2010 2012
dbSNP: rs760137559
rs760137559
ANO5
1 1.000 0.160 11 22270378 stop gained G/A;C snv 4.0E-06; 8.0E-06 0.700 1.000 2 2010 2012
dbSNP: rs1168346560
rs1168346560
ANO5
3 0.882 0.200 11 22218255 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs137854521
rs137854521
ANO5
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs137854523
rs137854523
ANO5
4 0.851 0.240 11 22236206 missense variant G/T snv 1.0E-03 9.6E-04 0.700 0
dbSNP: rs137854524
rs137854524
ANO5
3 0.882 0.200 11 22255485 missense variant C/G snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs142027093
rs142027093
ANO5
3 0.882 0.200 11 22263044 splice donor variant G/A snv 1.3E-04 8.4E-05 0.700 0
dbSNP: rs1564936489
rs1564936489
ANO5
2 0.925 0.160 11 22250987 frameshift variant T/- delins 0.700 0