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: rs1557497881
rs1557497881
GLMN
2 1.000 0.120 1 92247100 stop gained C/A snv 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs727503030
rs727503030
ELN
6 0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 0.700 0
dbSNP: rs770780171
rs770780171
GLMN ; RPAP2
1 1 92297461 stop gained G/T snv 4.0E-06 0.700 0
dbSNP: rs80338908
rs80338908
TEK
6 0.882 0.120 9 27206762 missense variant C/T snv 4.0E-06 7.0E-06 0.050 1.000 5 1996 2018
dbSNP: rs1210484348
rs1210484348
ABL1
3 0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016