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: rs121908856
rs121908856
SLC4A4
1 1.000 0.360 4 71447706 missense variant A/C snv 0.800 1.000 6 1999 2008
dbSNP: rs121908857
rs121908857
SLC4A4
2 0.925 0.360 4 71472728 missense variant G/A snv 7.0E-06 0.800 1.000 6 1999 2008
dbSNP: rs1203164637
rs1203164637
SLC4A4
2 0.925 0.360 4 71557721 missense variant C/T snv 7.0E-06 0.700 1.000 6 1999 2008
dbSNP: rs121908858
rs121908858
SLC4A4
2 0.925 0.360 4 71339333 stop gained C/T snv 0.700 0
dbSNP: rs1553913019
rs1553913019
SLC4A4
1 1.000 0.360 4 71440634 frameshift variant A/- delins 0.700 0