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: rs1057519942
rs1057519942
PIK3CA
16 0.724 0.320 3 179203760 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs143044921
rs143044921
FREM2
8 0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 0.700 0
dbSNP: rs1558939623
rs1558939623
CHN1
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs372359356
rs372359356
FRAS1
3 0.925 0.120 4 78337784 missense variant G/A snv 2.8E-05 3.5E-05 0.700 0
dbSNP: rs771409809
rs771409809
WFS1
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs780263938
rs780263938
GLI3
3 0.925 0.120 7 41966347 missense variant G/C snv 8.4E-06 0.700 0