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: rs121909387
rs121909387
SLC4A11
2 0.925 0.080 20 3228684 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121909388
rs121909388
SLC4A11
2 0.925 0.080 20 3230258 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121909389
rs121909389
SLC4A11
2 0.925 0.080 20 3230587 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121909390
rs121909390
SLC4A11
1 1.000 0.040 20 3229430 stop gained G/A;C snv 1.2E-05; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs121909391
rs121909391
SLC4A11
2 0.925 0.080 20 3228260 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs121909392
rs121909392
SLC4A11
2 0.925 0.080 20 3228259 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs869320617
rs869320617
SLC4A11
1 1.000 0.040 20 3229017 intron variant GCAGACGGGCA/CCGGCCGGCC delins 0.700 0
dbSNP: rs869320720
rs869320720
SLC4A11
1 1.000 0.040 20 3234298 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs532728316
rs532728316
SLC4A11
3 0.882 0.080 20 3230205 missense variant C/T snv 1.0E-04 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs767468885
rs767468885
DNAH8
2 0.925 0.080 6 38761702 missense variant G/A snv 5.5E-06 7.0E-06 0.010 1.000 1 2019 2019