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: rs6809651
rs6809651
4 3 186096853 intron variant G/A snv 0.14 0.700 1.000 2 2017 2019
dbSNP: rs10513801
rs10513801
3 3 186104564 intron variant T/G snv 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs112545201
rs112545201
3 3 186085743 intron variant C/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs201874364
rs201874364
4 1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs77805826
rs77805826
1 3 186080236 intron variant C/T snv 0.13 0.700 1.000 1 2019 2019