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: rs139620139
rs139620139
PRKAR1A ; FAM20A
1 1.000 0.200 17 68537671 stop gained G/A;C;T snv 1.2E-05; 4.0E-06; 6.8E-05 0.700 0
dbSNP: rs144411158
rs144411158
FAM20A
2 0.925 0.200 17 68555742 stop gained G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs1568724130
rs1568724130
PRKAR1A ; FAM20A
1 1.000 0.200 17 68542737 frameshift variant G/- del 0.700 0
dbSNP: rs377432171
rs377432171
PRKAR1A ; FAM20A
1 1.000 0.200 17 68540861 missense variant C/T snv 3.0E-05 7.0E-05 0.700 0
dbSNP: rs387907215
rs387907215
PRKAR1A ; FAM20A
1 1.000 0.200 17 68542796 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs587776911
rs587776911
FAM20A ; LINC01482
1 1.000 0.200 17 68600632 frameshift variant AG/- delins 1.4E-05 0.700 0
dbSNP: rs587776912
rs587776912
PRKAR1A ; FAM20A
1 1.000 0.200 17 68542811 splice acceptor variant T/C snv 1.2E-05 0.700 0
dbSNP: rs587776913
rs587776913
PRKAR1A ; FAM20A
1 1.000 0.200 17 68540889 frameshift variant AGCCG/- delins 0.700 0
dbSNP: rs587776914
rs587776914
FAM20A
1 1.000 0.200 17 68554829 splice acceptor variant T/C snv 0.700 0
dbSNP: rs587777530
rs587777530
PRKAR1A ; FAM20A
1 1.000 0.200 17 68543723 splice acceptor variant T/C snv 5.2E-05 0.700 0
dbSNP: rs587777531
rs587777531
FAM20A
1 1.000 0.200 17 68554805 frameshift variant G/- delins 0.700 0
dbSNP: rs981673034
rs981673034
PRKAR1A ; FAM20A
1 1.000 0.200 17 68542102 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs72554071
rs72554071
KCNJ8 ; LOC105369689
4 0.882 0.280 12 21765733 missense variant G/A;C snv 1.8E-03; 4.0E-06 0.020 1.000 2 2010 2012
dbSNP: rs186867242
rs186867242
CACNA1C ; CACNA1C-AS1
1 1.000 0.200 12 2686232 missense variant A/G snv 2.2E-04 4.9E-05 0.010 1.000 1 2017 2017
dbSNP: rs3734960
rs3734960
DPP6
2 0.925 0.240 7 154892443 missense variant T/C snv 0.33 0.36 0.010 1.000 1 2019 2019
dbSNP: rs67486287
rs67486287
SCN1B
1 1.000 0.200 19 35034040 missense variant G/A;C;T snv 7.9E-04; 0.14 0.010 1.000 1 2018 2018
dbSNP: rs878855295
rs878855295
SCN5A
1 1.000 0.200 3 38550619 missense variant T/C snv 0.010 1.000 1 2017 2017