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: rs1555600214
rs1555600214
UNC13D
5 0.925 0.040 17 75830577 splice donor variant C/T snv 0.700 0
dbSNP: rs1555601863
rs1555601863
UNC13D
5 0.925 0.040 17 75836430 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1567705064
rs1567705064
G6PC
8 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0
dbSNP: rs1569547876
rs1569547876
MAGT1
4 1.000 X 77841252 stop gained G/A snv 0.700 0
dbSNP: rs886039908
rs886039908
GPC3
5 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0