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: rs748743403
rs748743403
TBC1D7 ; PHACTR1 ; LOC100130357 ; TBC1D7-LOC100130357
1 1.000 6 13283473 missense variant C/T snv 1.6E-05 2.1E-05 0.800 0
dbSNP: rs1562103192
rs1562103192
TBC1D7 ; PHACTR1 ; LOC100130357 ; TBC1D7-LOC100130357
1 1.000 6 13272904 missense variant A/T snv 0.700 0
dbSNP: rs1562114406
rs1562114406
TBC1D7 ; PHACTR1 ; LOC100130357 ; TBC1D7-LOC100130357
1 1.000 6 13278319 missense variant T/C snv 0.700 0