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: rs104894302
rs104894302
0.851 0.200 11 112089002 missense variant A/G;T snv 4.0E-06
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.700 1.000 13 2000 2017