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: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2015 2015
dbSNP: rs4290270
rs4290270
TPH2
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 < 0.001 1 2018 2018