Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.050 1.000 5 2006 2019
dbSNP: rs165599
rs165599
ARVCF ; COMT
0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2012 2012
dbSNP: rs4818
rs4818
COMT ; MIR4761
0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2018 2018