Source: CURATED ×
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: rs12537
rs12537
MTMR3 ; HORMAD2-AS1
1 0.827 0.280 22 30027471 3 prime UTR variant C/T snv 0.40 0.800 1.000 2 2011 2015
dbSNP: rs2071543
rs2071543
PSMB8 ; PSMB8-AS1
2 0.925 0.200 6 32843852 missense variant G/T snv 0.14 0.13 0.700 1.000 1 2014 2014
dbSNP: rs4227
rs4227
SOX15 ; MPDU1
2 1.000 0.120 17 7587859 3 prime UTR variant G/T snv 0.71 0.67 0.800 1.000 1 2011 2011
dbSNP: rs7634389
rs7634389
ST6GAL1
1 1.000 0.120 3 187020633 intron variant T/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs3803800
rs3803800
TNFSF13 ; TNFSF12-TNFSF13
2 0.807 0.240 17 7559652 missense variant A/G snv 0.70 0.64 0.830 1.000 1 2011 2017
dbSNP: rs17019602
rs17019602
VAV3
1 1.000 0.120 1 107646236 intron variant A/G snv 0.19 0.710 1.000 1 2014 2017