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: rs267606914
rs267606914
NKX2-6 ; LOC107986930
2 0.925 0.080 8 23702906 missense variant A/G snv 0.700 1.000 4 2005 2015
dbSNP: rs11017328
rs11017328 		2 0.925 0.080 10 130548836 regulatory region variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121434423
rs121434423
GDF1 ; CERS1
2 0.925 0.080 19 18868916 missense variant C/T snv 7.2E-06 0.700 1.000 1 2007 2007
dbSNP: rs121908601
rs121908601
ZFPM2
4 0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03 0.700 1.000 1 2011 2011
dbSNP: rs146189703
rs146189703
LOC105377552
2 1.000 0.080 4 175023930 downstream gene variant T/C snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs17189763
rs17189763
HCG21
1 1.000 0.080 6 30955750 upstream gene variant C/T snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs1959122
rs1959122 		2 0.925 0.080 14 81871321 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2267386
rs2267386
KCNJ4 ; LOC105373029
2 0.925 0.080 22 38436107 intron variant G/A snv 2.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs2517582
rs2517582
LINC02570
1 1.000 0.080 6 30840985 intron variant C/T snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs387906813
rs387906813
GATA6
3 0.882 0.080 18 22181546 missense variant A/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs4366490
rs4366490
SLC22A24 ; SLC22A10
2 0.925 0.080 11 63145382 intron variant T/C snv 0.76 0.700 1.000 1 2014 2014
dbSNP: rs55884872
rs55884872 		1 1.000 0.080 8 59280255 intergenic variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs6140038
rs6140038 		2 0.925 0.080 20 6601515 intergenic variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs6545278
rs6545278 		2 0.925 0.080 2 52478914 upstream gene variant T/G snv 3.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs6763159
rs6763159
LOC105377110
2 0.925 0.080 3 59663795 intron variant T/C snv 0.52 0.700 1.000 1 2014 2014
dbSNP: rs6886261
rs6886261
LOC648987 ; LOC105374748
1 1.000 0.080 5 43022662 intron variant T/C snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs7024392
rs7024392 		1 1.000 0.080 9 12165298 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs74461473
rs74461473
SLC38A3
1 1.000 0.080 3 50213314 intron variant C/T snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs202204708
rs202204708
ZFPM2 ; ZFPM2-AS1
3 0.882 0.080 8 105788864 missense variant A/G snv 4.5E-04 4.7E-04 0.700 0
dbSNP: rs28936670
rs28936670
NKX2-5
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.700 0
dbSNP: rs28939675
rs28939675
TBX1
3 0.882 0.200 22 19763273 missense variant T/A snv 0.700 0
dbSNP: rs587777422
rs587777422
NKX2-6 ; LOC107986930
1 1.000 0.080 8 23702903 frameshift variant -/A ins 0.700 0