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: rs398123001
rs398123001
PUF60
4 0.925 8 143818378 missense variant G/A snv 0.800 1.000 1 2013 2013
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
7 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
5 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
dbSNP: rs1131692232
rs1131692232
PUF60
6 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0
dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs1554642573
rs1554642573
PUF60 ; SCRIB
1 1.000 8 143817402 frameshift variant AG/GGGGCTGGGCCAGGGTCAA delins 0.700 0
dbSNP: rs1554643584
rs1554643584
PUF60
1 1.000 8 143818494 missense variant C/T snv 0.700 0
dbSNP: rs1563818514
rs1563818514
PUF60 ; SCRIB
1 1.000 8 143816752 missense variant A/G snv 0.700 0
dbSNP: rs1563819620
rs1563819620
PUF60 ; SCRIB
1 1.000 8 143816948 stop gained G/A snv 0.700 0
dbSNP: rs1563823411
rs1563823411
PUF60 ; SCRIB
1 1.000 8 143817699 stop gained T/A snv 0.700 0
dbSNP: rs1563826453
rs1563826453
PUF60
1 1.000 8 143818473 frameshift variant TAGA/- delins 0.700 0