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: rs104894539
rs104894539
1 16 31094645 missense variant C/A snv 4.3E-06 1.4E-05 0.800 1.000 2 2004 2011
dbSNP: rs104894540
rs104894540
1 16 31094596 missense variant A/G snv 0.800 1.000 2 2004 2011
dbSNP: rs104894541
rs104894541
1 16 31094558 missense variant T/C snv 4.1E-06 0.800 1.000 2 2004 2011
dbSNP: rs61742245
rs61742245
2 16 31094624 missense variant C/A;T snv 2.4E-03 0.720 1.000 4 2004 2018
dbSNP: rs72547529
rs72547529
1 16 31093399 missense variant C/T snv 2.0E-04 8.4E-04 0.720 1.000 2 2011 2016
dbSNP: rs104894542
rs104894542
1 16 31091243 missense variant A/C snv 0.700 1.000 2 2004 2011
dbSNP: rs72558191
rs72558191
1 10 94947919 missense variant T/G snv 0.700 0
dbSNP: rs755767348
rs755767348
1 16 31093366 missense variant T/A snv 8.0E-06 0.700 0
dbSNP: rs770703948
rs770703948
1 16 31094654 missense variant C/A;G;T snv 8.6E-06; 4.3E-06 0.700 0
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2013 2013