Source: ALL
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: rs1451506414
rs1451506414
SLC22A12
4 0.882 0.200 11 64598561 synonymous variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs2276415
rs2276415
CLNS1A ; AQP11
6 0.882 0.160 11 77590296 missense variant G/A snv 0.14 0.13 0.010 1.000 1 2016 2016
dbSNP: rs2093266
rs2093266
SERPINA5 ; SERPINA4
1 1.000 0.080 14 94566450 intron variant G/A snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1955656
rs1955656
SERPINA5
1 1.000 0.080 14 94579038 intron variant G/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs753482595
rs753482595
SLC2A9
3 0.925 0.200 4 9920389 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs561633150
rs561633150
SLC2A9
2 0.925 0.200 4 9980627 missense variant C/T snv 6.1E-04 9.1E-05 0.010 1.000 1 2012 2012