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: rs199840952
rs199840952
ZAP70
7 0.827 0.240 2 97732893 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs869025224
rs869025224
ZAP70
7 0.827 0.240 2 97734709 missense variant G/C snv 7.0E-06 0.700 0
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs137852406
rs137852406
F8
2 0.925 0.080 X 154969400 missense variant T/C snv 5.5E-06 0.010 1.000 1 2014 2014
dbSNP: rs387906475
rs387906475
F9
3 0.882 0.080 X 139530843 missense variant G/A snv 0.010 1.000 1 1989 1989
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs766182641
rs766182641
AK3
3 0.882 0.080 9 4719292 missense variant A/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2013 2013