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: rs113488022
rs113488022
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.900 0.975 0 2004 2020
dbSNP: rs121913348
rs121913348
16 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.800 1.000 0 2002 2014
dbSNP: rs121913364
rs121913364
14 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.800 1.000 0 2002 2015
dbSNP: rs180177032
rs180177032
1 1.000 0.080 7 140781623 missense variant C/A snv 0.800 1.000 0 2006 2015
dbSNP: rs180177033
rs180177033
1 1.000 0.080 7 140781620 missense variant A/C snv 0.800 1.000 0 2006 2015