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: rs104893736
rs104893736
5 0.827 0.040 3 186539566 missense variant C/A snv 0.020 1.000 2 2009 2016
dbSNP: rs143507827
rs143507827
1 1.000 0.040 3 186539542 missense variant T/C snv 5.6E-04 2.0E-04 0.010 1.000 1 2013 2013
dbSNP: rs1483130765
rs1483130765
2 0.925 0.040 3 186538833 stop gained C/A snv 7.0E-06 0.010 1.000 1 2016 2016