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: rs1392714391
rs1392714391
LGSN
2 0.925 0.120 6 63285681 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs572427454
rs572427454
GABRB3
3 0.882 0.080 15 26560943 missense variant C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2019 2019