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: rs1057519263
rs1057519263
EPHB4
1 1.000 7 100807483 missense variant C/T snv 0.800 0
dbSNP: rs1057519264
rs1057519264
EPHB4
1 1.000 7 100806559 missense variant A/C snv 0.800 0
dbSNP: rs1562967463
rs1562967463
EPHB4
1 1.000 7 100807364 splice donor variant C/G snv 0.700 0