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: rs1014048269
rs1014048269
OXCT1
1 1.000 0.040 5 41805681 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121908261
rs121908261
INS ; INS-IGF2
4 0.851 0.120 11 2160809 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs16944
rs16944
IL1B
91 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs2251101
rs2251101
IDE
3 0.882 0.160 10 92451547 downstream gene variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
100 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2014 2014
dbSNP: rs587777042
rs587777042
CYC1
2 0.882 0.040 8 144096615 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs7214136
rs7214136
SREBF1
3 0.882 0.120 17 17816675 missense variant C/T snv 6.4E-03 1.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs745343884
rs745343884
BTD
2 0.882 0.120 3 15644335 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs758604661
rs758604661
ABCC8
2 0.925 0.120 11 17474898 missense variant A/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs80356624
rs80356624
KCNJ11
13 0.752 0.240 11 17387490 missense variant C/A;T snv 0.010 1.000 1 2011 2011