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: rs121909056
rs121909056
POU4F3
1 1.000 0.120 5 146340292 missense variant C/T snv 0.800 1.000 8 1998 2017
dbSNP: rs121909057
rs121909057
POU4F3
2 1.000 0.120 5 146340095 missense variant T/C snv 0.800 1.000 8 1998 2017
dbSNP: rs367737951
rs367737951
POU4F3
1 1.000 0.120 5 146339918 missense variant C/G;T snv 2.4E-05; 2.0E-05 0.700 1.000 8 1998 2017
dbSNP: rs1064792854
rs1064792854
POU4F3
1 1.000 0.120 5 146340089 frameshift variant GCTCGCTGAGCCAA/- del 0.700 0
dbSNP: rs1339291105
rs1339291105
POU4F3
1 1.000 0.120 5 146340409 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs398123070
rs398123070
POU4F3
1 1.000 0.120 5 146340404 missense variant G/A snv 0.700 0
dbSNP: rs398124631
rs398124631
POU4F3
1 1.000 0.120 5 146340307 frameshift variant TATCCAGC/- delins 0.700 0