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: rs121913409
rs121913409
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.090 1.000 9 2013 2019
dbSNP: rs121913412
rs121913412
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.060 1.000 6 2015 2019
dbSNP: rs1171472831
rs1171472831
1 1.000 0.040 3 41224664 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015