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: rs1454006905
rs1454006905
POMK
2 0.925 8 43103785 frameshift variant GA/- delins 7.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs587777423
rs587777423
POMK
2 0.925 8 43122149 stop gained C/G;T snv 1.2E-05 0.700 0