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: rs1554700718
rs1554700718
HNRNPK
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs373909351
rs373909351
IQCB1
6 0.882 0.200 3 121772659 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs398123538
rs398123538
IQCB1
6 0.882 0.200 3 121772605 frameshift variant TG/- delins 8.0E-05 7.0E-05 0.700 0