Source: ALL
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: rs1569290954
rs1569290954
IQSEC2
1 1.000 0.080 X 53234267 frameshift variant G/-;GG delins 0.700 0