Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555844617
rs1555844617
ADA
2 0.925 0.120 20 44625650 frameshift variant -/T delins 0.700 1.000 1 2011 2011
dbSNP: rs121908721
rs121908721
ADA ; PKIG
3 0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05 0.710 1.000 0 2019 2019