Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
COMPLEMENT COMPONENT 2 DEFICIENCY
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
4 1.000 6 31934289 splice donor variant GTGGACAGGGTCAGGAATCAGGAGTCTG/- delins 0.700 1.000 1 1992 1992