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: rs1223231582
rs1223231582
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.020 1.000 2 2006 2014
dbSNP: rs111033567
rs111033567
3 0.882 0.040 7 142750582 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs376907511
rs376907511
1 1.000 0.040 7 142752517 missense variant A/G snv 6.4E-05 0.010 < 0.001 1 2010 2010