Gene: AHI1 ×
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: rs777668842
rs777668842
AHI1
2 0.925 0.240 6 135455811 stop gained G/A;C snv 6.5E-05; 4.3E-06 0.700 1.000 3 2006 2015
dbSNP: rs371637724
rs371637724
AHI1
2 0.925 0.240 6 135448400 stop gained G/A;C;T snv 1.6E-05; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs121434351
rs121434351
AHI1
2 0.925 0.240 6 135433125 missense variant C/T snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs1276908141
rs1276908141
AHI1
1 1.000 0.160 6 135433187 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1554208431
rs1554208431
AHI1
1 1.000 0.160 6 135453426 frameshift variant A/- delins 0.700 0
dbSNP: rs1554214237
rs1554214237
AHI1
1 1.000 0.160 6 135463220 frameshift variant T/- del 0.700 0
dbSNP: rs1554350503
rs1554350503
AHI1
1 1.000 0.160 6 135447109 frameshift variant -/T delins 0.700 0
dbSNP: rs797045223
rs797045223
AHI1
2 0.925 0.240 6 135442633 stop gained C/A snv 0.700 0
dbSNP: rs905262279
rs905262279
AHI1
1 1.000 0.160 6 135448418 stop gained AA/- del 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121434350
rs121434350
AHI1
3 0.882 0.240 6 135455750 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs397514726
rs397514726
AHI1
2 0.925 0.240 6 135457593 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs780163791
rs780163791
AHI1
2 0.925 0.160 6 135323294 stop gained G/A;C snv 4.0E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs863225135
rs863225135
AHI1
3 0.882 0.240 6 135427244 missense variant T/C snv 1.4E-05 0.010 1.000 1 2018 2018