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: rs696
rs696
NFKBIA
22 0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2018 2018
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: rs767816037
rs767816037
CSH2
1 1.000 0.080 17 63872725 missense variant C/G;T snv 4.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs775020499
rs775020499
LRSAM1
1 1.000 0.080 9 127467764 missense variant A/G snv 8.2E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs782818582
rs782818582
ADAMTS13
3 0.882 0.160 9 133456116 stop gained C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs8094315
rs8094315
BCL2
1 1.000 0.080 18 63268814 intron variant A/G snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs9617814
rs9617814 		1 1.000 0.080 22 19622420 regulatory region variant A/G snv 0.22 0.010 1.000 1 2017 2017