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: rs104893756
rs104893756
POU1F1
1 1.000 0.120 3 87262203 missense variant C/G;T snv 2.4E-05; 8.0E-06 0.800 1.000 12 1992 2016
dbSNP: rs104893757
rs104893757
POU1F1
1 1.000 0.120 3 87276392 missense variant G/A snv 0.800 1.000 12 1992 2016
dbSNP: rs104893758
rs104893758
POU1F1
1 1.000 0.120 3 87262098 missense variant A/G snv 4.0E-06 0.800 1.000 12 1992 2016
dbSNP: rs104893759
rs104893759
POU1F1
1 1.000 0.120 3 87264299 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 12 1992 2016
dbSNP: rs104893761
rs104893761
POU1F1
1 1.000 0.120 3 87264323 missense variant A/C snv 0.800 1.000 12 1992 2016
dbSNP: rs104893762
rs104893762
POU1F1
1 1.000 0.120 3 87260055 missense variant G/A snv 0.800 1.000 12 1992 2016
dbSNP: rs104893764
rs104893764
POU1F1
1 1.000 0.120 3 87260082 stop gained C/T snv 2.4E-05 7.0E-06 0.800 1.000 12 1992 2016
dbSNP: rs104893765
rs104893765
POU1F1
1 1.000 0.120 3 87262160 missense variant C/T snv 4.0E-06 0.800 1.000 12 1992 2016
dbSNP: rs104893766
rs104893766
POU1F1
2 0.925 0.160 3 87262138 missense variant G/C snv 0.800 1.000 12 1992 2016
dbSNP: rs104893755
rs104893755
POU1F1
5 0.851 0.200 3 87259959 missense variant G/A snv 0.700 1.000 12 1992 2016
dbSNP: rs1207179169
rs1207179169
POU1F1
1 1.000 0.120 3 87262154 missense variant T/C snv 0.700 1.000 12 1992 2016
dbSNP: rs104893754
rs104893754
POU1F1
1 1.000 0.120 3 87262161 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs104893760
rs104893760
POU1F1
1 1.000 0.120 3 87260022 stop gained C/A snv 1.6E-05 0.700 0
dbSNP: rs104893763
rs104893763
POU1F1
1 1.000 0.120 3 87264294 stop gained T/A snv 0.700 0
dbSNP: rs515726221
rs515726221
POU1F1
1 1.000 0.120 3 87261272 splice donor variant C/A snv 0.700 0
dbSNP: rs587776798
rs587776798
POU1F1
1 1.000 0.120 3 87260023 frameshift variant T/- delins 0.700 0
dbSNP: rs587776799
rs587776799
POU1F1
1 1.000 0.120 3 87259994 frameshift variant -/T delins 0.700 0
dbSNP: rs606231411
rs606231411 		1 1.000 0.120 3 87310484 intergenic variant C/T snv 0.700 0
dbSNP: rs754137696
rs754137696
HESX1
2 0.925 0.160 3 57198797 missense variant A/C snv 1.9E-04 1.4E-05 0.700 0
dbSNP: rs754584667
rs754584667
POU1F1
1 1.000 0.120 3 87264515 splice region variant G/A;C;T snv 1.6E-05 0.700 0
dbSNP: rs772390221
rs772390221
POU1F1
2 0.925 0.160 3 87261296 frameshift variant CTTTC/- delins 0.700 0
dbSNP: rs777223697
rs777223697
HESX1
2 0.925 0.160 3 57198802 stop gained A/T snv 8.0E-06 0.700 0
dbSNP: rs777833871
rs777833871
HESX1
2 0.925 0.160 3 57198870 frameshift variant T/- del 1.4E-05 0.700 0
dbSNP: rs780359925
rs780359925
POU1F1
2 0.925 0.160 3 87259977 missense variant G/A snv 8.0E-06 0.700 0