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: rs104894228
rs104894228
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.830 1.000 8 2005 2017
dbSNP: rs104894228
rs104894228
0.605 0.560 11 534286 missense variant C/A;G;T snv
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn
0.800 1.000 1 2012 2012