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: rs1559035937
rs1559035937
ICOS
1 1.000 2 203955973 splice donor variant T/C snv 0.700 1.000 3 2001 2009
dbSNP: rs397514331
rs397514331
NFKB2 ; PSD
2 0.925 10 102402144 frameshift variant A/- delins 0.700 0