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: rs28928892
rs28928892
1.000 0.080 2 176094645 missense variant C/A;G snv 4.0E-06
CUI: C0220664
Disease: BRACHYDACTYLY, TYPE D
BRACHYDACTYLY, TYPE D
0.800 1.000 1 2003 2003