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: rs952497863
rs952497863
4 0.925 0.080 20 44414511 missense variant C/T snv 0.020 1.000 2 2014 2014
dbSNP: rs1223493898
rs1223493898
5 0.851 0.120 20 44406090 missense variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs1885088
rs1885088
2 1.000 0.080 20 44410400 intron variant G/A snv 0.15 0.010 < 0.001 1 2006 2006
dbSNP: rs2144908
rs2144908
5 0.851 0.120 20 44357077 intron variant G/A snv 0.18 0.010 < 0.001 1 2006 2006
dbSNP: rs2425637
rs2425637
3 0.925 0.080 20 44395409 intron variant G/T snv 0.42 0.010 < 0.001 1 2006 2006
dbSNP: rs4812829
rs4812829
3 0.925 0.120 20 44360627 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs753285226
rs753285226
5 0.882 0.080 20 44406084 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2006 2006