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: rs1057516138
rs1057516138
1 1.000 0.120 14 28767833 missense variant G/C;T snv 0.700 0
dbSNP: rs1064797186
rs1064797186
1 1.000 0.120 14 28767964 missense variant A/C snv 0.700 0
dbSNP: rs121913678
rs121913678
1 1.000 0.120 14 28768044 stop gained G/A;T snv 0.700 0
dbSNP: rs138747073
rs138747073
2 0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05 0.700 0
dbSNP: rs1452295073
rs1452295073
1 1.000 0.120 14 28767780 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1555321237
rs1555321237
1 1.000 0.120 14 28767493 stop gained C/T snv 0.700 0
dbSNP: rs1555321294
rs1555321294
1 1.000 0.120 14 28767779 frameshift variant A/- del 0.700 0
dbSNP: rs1555321337
rs1555321337
1 1.000 0.120 14 28767992 missense variant G/A snv 0.700 0
dbSNP: rs1555321351
rs1555321351
1 1.000 0.120 14 28768043 stop gained G/A snv 0.700 0
dbSNP: rs1555321361
rs1555321361
1 1.000 0.120 14 28768103 missense variant G/C snv 0.700 0
dbSNP: rs1566445169
rs1566445169
1 1.000 0.120 14 28767678 frameshift variant AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG/- delins 0.700 0
dbSNP: rs1566445489
rs1566445489
1 1.000 0.120 14 28767982 missense variant C/T snv 0.700 0
dbSNP: rs1566445533
rs1566445533
1 1.000 0.120 14 28768042 missense variant T/A snv 0.700 0
dbSNP: rs267606826
rs267606826
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs267606827
rs267606827
3 0.925 0.120 14 28768203 stop gained G/A snv 0.700 0
dbSNP: rs398124202
rs398124202
1 1.000 0.120 14 28767535 stop gained C/A;G;T snv 0.700 0
dbSNP: rs587783629
rs587783629
1 1.000 0.120 14 28767411 frameshift variant C/-;CC;CCC delins 0.700 0
dbSNP: rs587783631
rs587783631
1 1.000 0.120 14 28767447 frameshift variant ACCCGCCGCC/- delins 0.700 0
dbSNP: rs587783635
rs587783635
1 1.000 0.120 14 28767539 frameshift variant GGGGCGCCCCGGCCGC/- delins 0.700 0
dbSNP: rs587783636
rs587783636
1 1.000 0.120 14 28767573 frameshift variant C/- delins 0.700 0
dbSNP: rs587783640
rs587783640
1 1.000 0.120 14 28768034 missense variant G/T snv 0.700 0
dbSNP: rs587783641
rs587783641
1 1.000 0.120 14 28768036 missense variant A/G snv 0.700 0
dbSNP: rs587783642
rs587783642
1 1.000 0.120 14 28768041 stop gained C/G snv 0.700 0
dbSNP: rs587783643
rs587783643
1 1.000 0.120 14 28768078 missense variant G/A snv 0.700 0
dbSNP: rs727503935
rs727503935
1 1.000 0.120 14 28767949 missense variant G/A snv 0.700 0