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: rs121908159
rs121908159
1.000 0.120 10 14953908 missense variant G/C snv 4.0E-06
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.800 1.000 0 2004 2015