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: rs782543541
rs782543541
TSPEAR-AS1 ; TSPEAR
1 1.000 21 44509227 missense variant C/A;T snv 3.2E-05; 1.2E-05; 1.2E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs138480801
rs138480801
TSPEAR
1 1.000 21 44499878 missense variant C/A;T snv 2.3E-03 2.4E-03 0.700 0