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: rs121912748
rs121912748
SLC4A1
9 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.800 1.000 3 1998 2004
dbSNP: rs121912754
rs121912754
SLC4A1
3 0.882 0.200 17 44255292 missense variant C/G;T snv 0.800 1.000 3 1998 2004
dbSNP: rs121912753
rs121912753
SLC4A1
5 0.827 0.200 17 44251583 missense variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs1376457227
rs1376457227
WDR72
2 0.925 0.200 15 53665757 missense variant T/C snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs557128345
rs557128345
WDR72
3 0.882 0.240 15 53615520 stop gained G/A snv 2.4E-05 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs768446132
rs768446132
WDR72
2 0.925 0.200 15 53615684 missense variant A/T snv 8.1E-06 0.700 1.000 1 2018 2018
dbSNP: rs121912745
rs121912745
SLC4A1
9 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
dbSNP: rs121912752
rs121912752
SLC4A1
1 1.000 0.200 17 44251264 inframe deletion ACC/- delins 4.0E-06 0.700 0
dbSNP: rs28931584
rs28931584
SLC4A1
2 0.925 0.200 17 44257514 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0