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: rs139617694
rs139617694
6 0.851 0.080 19 11113534 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs146200173
rs146200173
3 0.882 0.080 19 11113292 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs370777955
rs370777955
3 0.882 0.080 19 11113643 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs879254925
rs879254925
8 0.790 0.120 19 11113680 missense variant G/T snv 0.100 1.000 10 2004 2020
dbSNP: rs730882106
rs730882106
5 0.882 0.080 19 11113752 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs749780672
rs749780672
2 0.925 0.080 19 11113426 missense variant C/A;G snv 1.6E-05 0.010 1.000 1 1997 1997
dbSNP: rs879254894
rs879254894
1 1.000 0.040 19 11113593 missense variant A/G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs879254896
rs879254896
2 0.925 0.080 19 11113599 frameshift variant GC/A delins 0.010 1.000 1 1998 1998
dbSNP: rs879254900
rs879254900
5 0.882 0.080 19 11113612 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs879254906
rs879254906
3 0.882 0.080 19 11113630 missense variant A/G snv 0.010 1.000 1 2005 2005