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: rs767808984
rs767808984
NKX2-1 ; SFTA3 ; NKX2-1-AS1
9 0.851 0.160 14 36520098 missense variant C/G;T snv 1.3E-05 0.010 1.000 1 2012 2012