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: rs121909503
rs121909503
CHRND
1 1.000 2 232530131 missense variant C/A;T snv 8.0E-06 0.800 1.000 3 2001 2008
dbSNP: rs121909504
rs121909504
CHRND
1 1.000 2 232527440 missense variant G/A snv 0.800 1.000 3 2001 2008
dbSNP: rs121909509
rs121909509
CHRND
1 1.000 2 232527438 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.800 1.000 3 2001 2008
dbSNP: rs121909508
rs121909508
CHRND
1 1.000 2 232526664 missense variant T/C snv 0.700 0
dbSNP: rs879255564
rs879255564
CHRND
1 1.000 2 232530139 splice donor variant AG/- del 4.0E-06 0.700 0