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: rs548424453
rs548424453
SLC12A5
2 1.000 0.040 20 46057189 missense variant C/A;T snv 5.2E-05 0.800 1.000 3 2014 2015
dbSNP: rs142740233
rs142740233
SLC12A5
3 0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06 0.700 1.000 3 2014 2015