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: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
dbSNP: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
dbSNP: rs879253718
rs879253718
1 1.000 0.080 10 121520109 inframe deletion ACCACT/- del 0.700 0
dbSNP: rs104894055
rs104894055
2 0.925 0.080 7 19117240 stop gained G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs121918497
rs121918497
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2006 2006
dbSNP: rs562297920
rs562297920
1 1.000 0.080 10 121515192 synonymous variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs974173968
rs974173968
3 0.882 0.080 10 121551382 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2015 2015