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: rs55758736
rs55758736
BLK
5 0.851 0.120 8 11548067 missense variant G/A snv 1.2E-02 1.5E-02 0.700 0
dbSNP: rs61199332
rs61199332
1 1.000 0.080 8 11573132 upstream gene variant C/T snv 6.2E-02 0.700 0
dbSNP: rs886037620
rs886037620
1 1.000 0.080 8 11474238 intron variant G/A snv 1.4E-05 0.700 0
dbSNP: rs886037621
rs886037621
BLK
1 1.000 0.080 8 11564613 splice region variant G/T snv 1.4E-05 7.0E-06 0.700 0