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: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.100 1.000 16 2002 2019
dbSNP: rs10917661
rs10917661
3 0.882 0.160 1 161671427 stop gained C/T snv 2.8E-05 0.030 1.000 3 2006 2008
dbSNP: rs1050499
rs1050499
1 1.000 0.080 1 161673197 missense variant A/T snv 2.4E-03 4.4E-03 0.010 1.000 1 2007 2007
dbSNP: rs12117530
rs12117530
2 0.925 0.120 1 161674194 non coding transcript exon variant G/T snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs3219018
rs3219018
2 1.000 0.080 1 161662856 upstream gene variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs5017567
rs5017567
1 1.000 0.080 1 161671506 missense variant A/C snv 6.4E-05 1.3E-04 0.010 1.000 1 2007 2007