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: rs387907060
rs387907060
TTC21B
1 1.000 2 165911404 missense variant A/G snv 0.800 1.000 1 2011 2011
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 0
dbSNP: rs149925563
rs149925563
TTC21B ; TTC21B-AS1
2 0.925 2 165941046 missense variant T/A snv 1.1E-03 7.0E-04 0.700 0
dbSNP: rs185089786
rs185089786
TTC21B
1 1.000 2 165929290 stop gained G/A;C snv 1.2E-05; 1.1E-04 0.700 0