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: rs855791
rs855791
17 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.800 1.000 6 2010 2019
dbSNP: rs2413450
rs2413450
5 22 37074184 intron variant T/C snv 0.61 0.800 1.000 2 2009 2017
dbSNP: rs4820268
rs4820268
5 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.800 1.000 1 2009 2012
dbSNP: rs6000550
rs6000550
4 22 37067410 intron variant C/G;T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs9607412
rs9607412
1 22 37088297 intron variant T/A;C snv 0.700 1.000 1 2016 2016