Source: BEFREE ×
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: rs1047891
rs1047891
CPS1
4 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.010 1.000 1 2016 2016
dbSNP: rs1384663432
rs1384663432
CARD8
2 0.925 0.040 19 48218886 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1384936174
rs1384936174
NOD2
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
36 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017