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: rs121913618
rs121913618
2 0.925 0.080 17 10641318 missense variant G/A snv 0.820 1.000 4 2006 2015
dbSNP: rs121913617
rs121913617
1 1.000 0.080 17 10641317 missense variant C/T snv 0.810 1.000 3 2006 2016
dbSNP: rs121913619
rs121913619
4 0.882 0.080 17 10650374 missense variant G/A;T snv 4.0E-06 0.810 1.000 3 2006 2019
dbSNP: rs121913620
rs121913620
1 1.000 0.080 17 10640204 missense variant A/T snv 0.800 1.000 2 2006 2008
dbSNP: rs121913623
rs121913623
3 0.882 0.080 17 10648592 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs797045727
rs797045727
2 0.925 0.080 17 10642903 missense variant A/C snv 0.700 0