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: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.020 1.000 2 2011 2015
dbSNP: rs1512325
rs1512325
1 1.000 0.040 4 148368541 intron variant A/G snv 0.45 0.010 1.000 1 2020 2020
dbSNP: rs17581262
rs17581262
1 1.000 0.040 4 148247291 intron variant A/G snv 0.17 0.010 1.000 1 2017 2017