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: rs199801224
rs199801224
TANGO2
1 1.000 22 20043392 stop gained C/A;T snv 2.8E-05 0.700 1.000 2 2017 2019
dbSNP: rs1162037663
rs1162037663
TANGO2
1 1.000 22 20052575 stop gained C/T snv 5.5E-06 0.700 0
dbSNP: rs372949028
rs372949028
TANGO2
13 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 0
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 0
dbSNP: rs764883927
rs764883927
TANGO2
1 1.000 22 20055980 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs869320693
rs869320693
TANGO2
1 1.000 22 20036802 frameshift variant T/- del 0.700 0