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: rs10913469
rs10913469
7 1.000 0.080 1 177944384 intron variant T/C snv 0.22 0.700 1.000 2 2009 2019
dbSNP: rs545608
rs545608
4 0.925 0.040 1 177929986 intron variant G/C snv 0.20 0.700 1.000 2 2017 2019
dbSNP: rs591120
rs591120
3 1 177933618 missense variant G/A;C snv 4.0E-06; 0.42 0.700 1.000 2 2015 2018