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: rs387906677
rs387906677
1 1.000 10 121515232 missense variant A/C snv 0.800 1.000 1 2012 2012
dbSNP: rs387906678
rs387906678
5 0.851 0.120 10 121515263 missense variant A/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs1057519044
rs1057519044
11 0.752 0.440 10 121517390 missense variant C/T snv 0.700 0
dbSNP: rs121913478
rs121913478
17 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
dbSNP: rs121918487
rs121918487
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121918491
rs121918491
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1434545235
rs1434545235
11 0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1554927408
rs1554927408
12 0.742 0.480 10 121515254 missense variant C/T snv 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