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: rs1396171148
rs1396171148
5 0.851 0.200 2 222613892 missense variant T/G snv 0.800 1.000 3 2018 2018
dbSNP: rs1466642025
rs1466642025
5 0.851 0.200 2 222631635 missense variant A/G snv 7.0E-06 0.800 1.000 3 2018 2018
dbSNP: rs1553553086
rs1553553086
9 0.827 0.280 2 222623699 missense variant C/T snv 0.800 1.000 3 2018 2018
dbSNP: rs773579570
rs773579570
1 1.000 0.040 2 222624762 missense variant C/T snv 8.1E-06 7.0E-06 0.800 1.000 3 2018 2018
dbSNP: rs753710639
rs753710639
2 0.925 0.040 2 222631623 missense variant G/A snv 4.0E-05 2.8E-05 0.800 0
dbSNP: rs767956337
rs767956337
1 1.000 0.040 2 222628884 missense variant C/T snv 0.800 0
dbSNP: rs1553554543
rs1553554543
5 0.851 0.200 2 222631606 missense variant T/C snv 0.700 1.000 3 2018 2018
dbSNP: rs1419129874
rs1419129874
5 0.851 0.200 2 222642894 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1553549333
rs1553549333
2 0.925 0.040 2 222600060 frameshift variant G/TT delins 0.700 0
dbSNP: rs777071414
rs777071414
1 1.000 0.040 2 222630112 splice donor variant C/G;T snv 4.7E-06 0.700 0