Gene: PDE6A ×
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: rs753942596
rs753942596
PDE6A
1 1.000 0.080 5 149884549 stop gained G/A snv 2.8E-05 7.0E-06 0.710 1.000 1 2018 2018
dbSNP: rs139444207
rs139444207
PDE6A
2 0.925 0.080 5 149895206 missense variant G/T snv 1.2E-04 1.5E-04 0.700 1.000 2 1999 2010
dbSNP: rs141252097
rs141252097
PDE6A
2 0.925 0.080 5 149944370 missense variant G/A;T snv 2.4E-05; 1.7E-04 0.700 1.000 2 1999 2015
dbSNP: rs144484128
rs144484128
PDE6A
1 1.000 0.080 5 149895281 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs146591309
rs146591309
PDE6A ; MFFP2
1 1.000 0.080 5 149931117 stop gained G/A snv 3.6E-05 4.9E-05 0.700 1.000 1 2006 2006
dbSNP: rs754012367
rs754012367
PDE6A
1 1.000 0.080 5 149866193 frameshift variant GTCA/- delins 2.4E-05 3.5E-05 0.700 1.000 1 2019 2019
dbSNP: rs121918576
rs121918576
PDE6A
2 0.925 0.080 5 149886354 stop gained G/C snv 7.0E-06 0.700 0
dbSNP: rs759589388
rs759589388
PDE6A
2 0.925 0.080 5 149895227 missense variant G/A snv 1.2E-05 0.010 1.000 1 2015 2015