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: rs121912884
rs121912884
1 1.000 0.240 12 47985575 missense variant G/A snv 0.800 1.000 3 1994 2010
dbSNP: rs121912882
rs121912882
4 0.851 0.280 12 47979534 missense variant G/A snv 0.710 1.000 4 1994 2018
dbSNP: rs1025202963
rs1025202963
1 1.000 0.240 12 47987655 missense variant C/T snv 0.700 0
dbSNP: rs121912866
rs121912866
1 1.000 0.240 12 47978698 stop gained G/A snv 0.700 0
dbSNP: rs121912869
rs121912869
1 1.000 0.240 12 47995904 stop gained G/A snv 0.700 0
dbSNP: rs121912873
rs121912873
1 1.000 0.240 12 47977627 frameshift variant A/- del 0.700 0
dbSNP: rs121912874
rs121912874
14 0.716 0.400 12 47978329 missense variant G/A snv 0.700 0
dbSNP: rs121912876
rs121912876
3 0.925 0.280 12 47994041 missense variant G/A snv 0.700 0
dbSNP: rs121912893
rs121912893
15 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
dbSNP: rs1246771678
rs1246771678
1 1.000 0.240 12 48000055 stop gained G/A;T snv 0.700 0
dbSNP: rs1555164735
rs1555164735
1 1.000 0.240 12 47975472 frameshift variant G/- del 0.700 0
dbSNP: rs1555165204
rs1555165204
1 1.000 0.240 12 47977428 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555166218
rs1555166218
1 1.000 0.240 12 47981804 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1555166295
rs1555166295
1 1.000 0.240 12 47982105 splice donor variant A/- del 0.700 0
dbSNP: rs1555166555
rs1555166555
1 1.000 0.240 12 47982940 stop gained G/A snv 0.700 0
dbSNP: rs1555166658
rs1555166658
1 1.000 0.240 12 47983384 splice donor variant C/T snv 0.700 0
dbSNP: rs1555168309
rs1555168309
1 1.000 0.240 12 47992930 splice acceptor variant C/- delins 0.700 0
dbSNP: rs1555168965
rs1555168965
1 1.000 0.240 12 47996544 splice region variant T/- delins 0.700 0
dbSNP: rs1565679039
rs1565679039
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs748459670
rs748459670
1 1.000 0.240 12 47978015 stop gained G/A;C snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs794727261
rs794727261
14 0.716 0.400 12 47999953 stop gained G/T snv 0.700 0
dbSNP: rs794727339
rs794727339
1 1.000 0.240 12 47987085 missense variant C/G;T snv 0.700 0
dbSNP: rs886043356
rs886043356
1 1.000 0.240 12 47977118 missense variant C/T snv 0.700 0
dbSNP: rs121912931
rs121912931
3 0.882 0.280 6 70281033 stop gained G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs367718984
rs367718984
2 0.925 0.280 2 74536348 missense variant G/A snv 2.0E-05; 4.0E-06 0.010 1.000 1 2019 2019