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: rs1430793034
rs1430793034
1.000 0.080 22 36285296 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
0.700 0
dbSNP: rs1555154946
rs1555154946
0.827 0.120 12 45850644 stop gained C/T snv
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
0.700 0