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: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs10500204
rs10500204
INSR
3 0.882 0.160 19 7182952 intron variant A/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs10941679
rs10941679 		11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs12124649
rs12124649
MAST2
2 0.925 0.080 1 46033535 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2382112
rs2382112 		2 0.925 0.080 2 147841581 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs3750817
rs3750817
FGFR2
4 0.851 0.080 10 121573063 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2004 2004