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: rs779003155
rs779003155
EBF3
1 1.000 10 129877779 missense variant G/A;T snv 4.0E-06 0.800 1.000 3 2017 2017
dbSNP: rs869312668
rs869312668
EBF3
1 1.000 10 129957282 missense variant G/A snv 0.800 1.000 3 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.800 0
dbSNP: rs1057519518
rs1057519518
EBF3
1 1.000 10 129963462 missense variant T/C snv 0.800 0
dbSNP: rs1057519519
rs1057519519
EBF3
1 1.000 10 129958997 missense variant T/C snv 0.800 0
dbSNP: rs1057519520
rs1057519520
EBF3
1 1.000 10 129877825 missense variant C/A snv 0.800 0
dbSNP: rs1057519437
rs1057519437
EBF3
6 0.851 0.240 10 129957300 missense variant C/T snv 0.700 0
dbSNP: rs1057519521
rs1057519521
EBF3
8 0.851 0.120 10 129963375 frameshift variant TCTC/- del 0.700 0
dbSNP: rs1057519522
rs1057519522
EBF3
2 1.000 10 129877788 stop gained G/A snv 0.700 0
dbSNP: rs1554904330
rs1554904330
EBF3
1 1.000 10 129877811 missense variant C/T snv 0.700 0
dbSNP: rs1554934855
rs1554934855
EBF3
1 1.000 10 129957258 missense variant C/T snv 0.700 0
dbSNP: rs1564927062
rs1564927062
EBF3
1 1.000 10 129958957 missense variant CA/AG mnv 0.700 0