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: rs1559279177
rs1559279177
HJV
5 0.851 0.160 1 146018661 frameshift variant G/- del 0.700 0
dbSNP: rs1560264452
rs1560264452
SOX2 ; SOX2-OT
5 0.851 0.200 3 181712745 frameshift variant GG/- del 0.700 0