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: rs7251432
rs7251432
HAMP
2 0.925 0.080 19 35284538 non coding transcript exon variant A/G;T snv 0.43 0.010 1.000 1 2008 2008
dbSNP: rs3813280
rs3813280
FRG1-DT
1 1.000 0.080 4 189803262 intron variant A/G snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs6843588
rs6843588
CBR4
1 1.000 0.080 4 168978809 intron variant G/A snv 0.49 0.700 1.000 1 2010 2010
dbSNP: rs2569190
rs2569190
CD14 ; TMCO6
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs4869544
rs4869544
WDR70 ; RNU6-484P
1 1.000 0.080 5 37700414 non coding transcript exon variant C/T snv 0.70 0.700 1.000 1 2010 2010
dbSNP: rs3126184
rs3126184 		2 0.925 0.080 14 49905817 upstream gene variant T/C snv 0.87 0.010 1.000 1 2015 2015