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: rs387906692
rs387906692
PRKAR1A ; FAM20A
11 0.752 0.480 17 68530405 stop gained C/T snv 0.030 1.000 3 2012 2017
dbSNP: rs1277191501
rs1277191501
PDE4D
2 0.925 0.280 5 58975716 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs371950648
rs371950648
PDE4D
2 0.925 0.280 5 58975740 missense variant G/A snv 1.1E-04 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs374011584
rs374011584
PDE4D
2 0.925 0.280 5 58975776 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs397514467
rs397514467
PDE4D
2 0.925 0.240 5 58976421 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs766422930
rs766422930
GNAS
2 0.925 0.280 20 58854188 missense variant C/A;T snv 1.2E-05; 1.6E-05 0.010 1.000 1 2014 2014