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: rs104894537
rs104894537
SALL1
2 0.925 0.200 16 51141396 stop gained G/A;T snv 1.2E-05 0.700 1.000 1 2003 2003
dbSNP: rs864621971
rs864621971
SALL1
1 1.000 0.200 16 51141273 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs104894535
rs104894535
SALL1
1 1.000 0.200 16 51141107 stop gained G/C;T snv 0.700 0
dbSNP: rs104894538
rs104894538
SALL1
3 0.882 0.200 16 51141255 stop gained G/A snv 0.700 0
dbSNP: rs1085307143
rs1085307143
SALL1
1 1.000 0.200 16 51141113 frameshift variant AC/- del 0.700 0
dbSNP: rs137853084
rs137853084
SALL1
1 1.000 0.200 16 51140966 stop gained A/T snv 8.0E-06 0.700 0