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: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
0.840 1.000 9 1990 2019
dbSNP: rs104894230
rs104894230
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.700 0