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: rs121909575
rs121909575
TFAP2A ; TFAP2A-AS2
1 1.000 0.040 6 10402590 missense variant C/T snv 0.800 1.000 1 2008 2008