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: rs74315429
rs74315429
SALL4
1 1.000 0.120 20 51788940 missense variant T/C snv 0.800 1.000 3 2002 2006
dbSNP: rs879255537
rs879255537
SALL4
1 1.000 0.120 20 51792072 frameshift variant -/C delins 0.700 1.000 1 2016 2016
dbSNP: rs1555850961
rs1555850961
SALL4
1 1.000 0.120 20 51791920 frameshift variant C/- delins 0.700 0
dbSNP: rs1568864697
rs1568864697
SALL4
1 1.000 0.120 20 51791251 frameshift variant A/- del 0.700 0
dbSNP: rs1568865283
rs1568865283
SALL4
1 1.000 0.120 20 51791655 frameshift variant -/C delins 0.700 0
dbSNP: rs74315424
rs74315424
SALL4
1 1.000 0.120 20 51790529 stop gained G/A snv 0.700 0
dbSNP: rs74315425
rs74315425
SALL4
1 1.000 0.120 20 51789010 stop gained G/A snv 0.700 0
dbSNP: rs74315426
rs74315426
SALL4
1 1.000 0.120 20 51791960 stop gained T/A snv 0.700 0
dbSNP: rs74315427
rs74315427
SALL4
1 1.000 0.120 20 51790634 stop gained G/A snv 0.700 0
dbSNP: rs74315428
rs74315428
SALL4
1 1.000 0.120 20 51788890 stop gained G/A snv 0.700 0
dbSNP: rs797044509
rs797044509
SALL4
1 1.000 0.120 20 51791986 frameshift variant -/G delins 0.700 0