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: rs104893915
rs104893915
SLC26A2
10 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.010 1.000 1 2001 2001
dbSNP: rs766335907
rs766335907
COMP
4 0.851 0.200 19 18787632 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2001 2001