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: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs1057516049
rs1057516049
7 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0
dbSNP: rs1057516264
rs1057516264
13 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1057518345
rs1057518345
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518681
rs1057518681
7 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057518770
rs1057518770
6 1.000 15 25354536 missense variant C/T snv 0.700 0
dbSNP: rs1057518776
rs1057518776
4 0.925 0.080 14 101986027 missense variant T/A snv 0.700 0
dbSNP: rs1057518786
rs1057518786
5 1.000 6 33441374 splice region variant G/A snv 0.700 0
dbSNP: rs1057518789
rs1057518789
2 0.925 0.040 16 3728803 stop gained G/A snv 0.700 0
dbSNP: rs1057518796
rs1057518796
3 1.000 6 33443751 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518821
rs1057518821
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1057518843
rs1057518843
19 0.790 0.240 14 87988523 missense variant C/T snv 0.700 0
dbSNP: rs1057518848
rs1057518848
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1057518849
rs1057518849
4 0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1057518853
rs1057518853
3 0.882 0.120 X 20161641 splice donor variant -/A delins 0.700 0
dbSNP: rs1057518864
rs1057518864
7 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057518913
rs1057518913
7 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
dbSNP: rs1057518918
rs1057518918
6 0.882 0.160 6 157184329 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518921
rs1057518921
7 1.000 X 71132465 missense variant G/A snv 0.700 0
dbSNP: rs1057518932
rs1057518932
2 1.000 17 44855003 missense variant T/A snv 0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
7 0.851 0.280 2 1484815 missense variant C/T snv 0.700 0
dbSNP: rs1057518951
rs1057518951
5 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
dbSNP: rs1057518961
rs1057518961
5 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
dbSNP: rs1057519090
rs1057519090
7 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0