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: rs35152987
rs35152987
HBD
2 0.925 0.080 11 5234352 missense variant C/A;T snv 2.2E-03 0.700 1.000 1 2015 2015
dbSNP: rs766432
rs766432
5 0.925 0.080 2 60492835 intron variant C/A snv 0.80 0.700 1.000 1 2014 2014
dbSNP: rs7776054
rs7776054
13 6 135097778 intron variant A/G snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs7950726
rs7950726
1 11 5204217 upstream gene variant C/A snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs9399137
rs9399137
6 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013