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: rs755208949
rs755208949
PYROXD1
1 1.000 12 21462862 missense variant G/C snv 1.6E-05 7.0E-06 0.800 1.000 1 2016 2016
dbSNP: rs781565158
rs781565158
PYROXD1
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.800 1.000 1 2016 2016
dbSNP: rs1057518754
rs1057518754
PYROXD1
1 1.000 12 21449692 splice donor variant G/A snv 0.700 0
dbSNP: rs1057518755
rs1057518755
PYROXD1
1 1.000 12 21467523 frameshift variant -/CAAA delins 0.700 0
dbSNP: rs369083786
rs369083786
PYROXD1
1 1.000 12 21445467 splice donor variant G/A snv 8.6E-05 9.1E-05 0.700 0