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: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.030 0.667 3 2013 2019
dbSNP: rs71310379
rs71310379
1 3 179199003 missense variant C/A snv 4.4E-05 4.2E-05 0.020 1.000 2 2013 2015
dbSNP: rs7646409
rs7646409
4 0.882 0.040 3 179182405 intron variant T/C snv 0.26 0.010 1.000 1 2013 2013