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: rs1057515576
rs1057515576
ARL6
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs1057518903
rs1057518903
MEN1
6 0.882 0.160 11 64807890 splice region variant C/- delins 0.700 0
dbSNP: rs1135401784
rs1135401784
CP
3 0.925 0.120 3 149178537 missense variant A/G snv 0.700 0
dbSNP: rs1553769428
rs1553769428
HJV
4 0.925 0.120 1 146018352 stop gained C/A snv 0.700 0
dbSNP: rs1559279177
rs1559279177
HJV
5 0.851 0.160 1 146018661 frameshift variant G/- del 0.700 0
dbSNP: rs28936415
rs28936415
PMM2
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs386134141
rs386134141
CP
3 0.925 0.120 3 149177980 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs587783669
rs587783669
KCNJ11
4 0.882 0.160 11 17387594 stop gained G/C;T snv 0.700 0
dbSNP: rs587783673
rs587783673
KCNJ11
2 1.000 0.120 11 17387407 missense variant C/T snv 0.700 0
dbSNP: rs587783675
rs587783675
KCNJ11
1 11 17387104 missense variant A/G snv 0.700 0
dbSNP: rs886040857
rs886040857
EIF2S3
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs193929355
rs193929355
KCNJ11
4 0.882 0.120 11 17387128 missense variant C/T snv 0.710 < 0.001 1 2012 2012
dbSNP: rs80356625
rs80356625
KCNJ11
6 0.827 0.280 11 17387491 missense variant G/A snv 0.710 1.000 1 2005 2005
dbSNP: rs10084572
rs10084572
LOC105372829
3 1.000 0.040 21 43992991 downstream gene variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10224002
rs10224002
PRKAG2
12 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
dbSNP: rs10497721
rs10497721
TMEFF2 ; LOC101927366
2 1.000 0.040 2 192049636 intron variant C/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs10811652
rs10811652
CDKN2B-AS1
4 0.882 0.120 9 22077086 intron variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10941191
rs10941191 		3 1.000 0.040 5 34504693 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11124945
rs11124945
PLEKHH2
3 1.000 0.040 2 43650017 intron variant A/G snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs113296370
rs113296370
PLEKHH2
3 1.000 0.040 2 43636315 upstream gene variant A/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs11622435
rs11622435
LOC101928462
7 0.827 0.120 14 81151652 intron variant G/A snv 4.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs11864909
rs11864909
PDILT
7 0.851 0.160 16 20389517 intron variant C/T snv 0.23 0.700 1.000 1 2018 2018