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 0.010 1.000 1 2008 2008
dbSNP: rs121912751
rs121912751
SLC4A1
4 0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05 0.010 1.000 1 2008 2008