Source: UNIPROT

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: rs121913254
rs121913254
0.658 0.440 1 114713909 stop gained G/A;C;T snv
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
0.700 1.000 2 2009 2013
dbSNP: rs121913254
rs121913254
0.658 0.440 1 114713909 stop gained G/A;C;T snv
CUI: C0544862
Disease: Neurocutaneous melanosis
Neurocutaneous melanosis
0.700 1.000 1 2013 2013