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: rs397509385
rs397509385
POMK
1 1.000 8 43122234 missense variant T/G snv 7.0E-06 0.800 1.000 4 2013 2014
dbSNP: rs397509386
rs397509386
POMK
1 1.000 8 43122597 missense variant A/G snv 1.2E-05 3.5E-05 0.800 1.000 4 2013 2014
dbSNP: rs1454006905
rs1454006905
POMK
2 0.925 8 43103785 frameshift variant GA/- delins 7.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs199756983
rs199756983
POMK
1 1.000 8 43122729 missense variant T/A snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs587777423
rs587777423
POMK
2 0.925 8 43122149 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs606231306
rs606231306
POMK
1 1.000 8 43122110 frameshift variant T/- delins 0.700 0