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: rs774072476
rs774072476
1 1.000 0.040 2 177234112 missense variant C/T snv 8.0E-06 0.020 1.000 2 2010 2018
dbSNP: rs1185894299
rs1185894299
1 1.000 0.040 2 177232545 synonymous variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1469602964
rs1469602964
1 1.000 0.040 2 177233301 missense variant A/T snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs2364725
rs2364725
1 1.000 0.040 2 177268260 intron variant G/T snv 0.55 0.010 1.000 1 2015 2015
dbSNP: rs35652124
rs35652124
8 0.790 0.320 2 177265345 intron variant T/C snv 0.29 0.010 < 0.001 1 2016 2016
dbSNP: rs6721961
rs6721961
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2018 2018