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: rs1043673
rs1043673
NLRP2
2 19 55000864 missense variant C/A snv 0.37 0.39 0.010 1.000 1 2013 2013
dbSNP: rs12930749
rs12930749
KIAA0556 ; LOC100128079
1 16 27716458 non coding transcript exon variant A/G snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs1650232
rs1650232
SFTPA2
2 1.000 0.040 10 79559511 splice region variant C/A;T snv 3.6E-03; 0.71 0.010 1.000 1 2013 2013
dbSNP: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.010 < 0.001 1 2013 2013
dbSNP: rs2107538
rs2107538
CCL5 ; LOC105371744
11 0.763 0.360 17 35880776 5 prime UTR variant C/T snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs2280789
rs2280789
CCL5 ; LOC105371744
3 0.925 0.080 17 35879999 intron variant A/G snv 0.16 0.010 1.000 1 2015 2015