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: rs1397360375
rs1397360375
SLC12A5 ; LOC105372632 ; SLC12A5-AS1
1 1.000 0.040 20 46021886 missense variant G/T snv 0.010 1.000 1 2016 2016
dbSNP: rs796052508
rs796052508
GABRG2
1 1.000 0.040 5 162142238 missense variant C/A;T snv 0.010 1.000 1 2019 2019