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: rs140352254
rs140352254
PMFBP1
1 1.000 16 72122957 stop gained G/A snv 1.9E-04 9.8E-05 0.700 0
dbSNP: rs1567621034
rs1567621034
PMFBP1
1 1.000 16 72126129 frameshift variant C/- del 0.700 0
dbSNP: rs759127010
rs759127010
PMFBP1
1 1.000 16 72154298 stop gained A/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs772371753
rs772371753
PMFBP1
1 1.000 16 72124794 frameshift variant TT/- delins 2.0E-05 0.700 0
dbSNP: rs777263062
rs777263062
PMFBP1
1 1.000 16 72130708 stop gained G/A snv 4.0E-06 0.700 0