Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894854
rs104894854
1.000 0.320 X 133753628 missense variant A/T snv
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.800 1.000 1 2000 2000
dbSNP: rs104894855
rs104894855
0.925 0.440 X 133753919 stop gained G/A snv
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.700 0
dbSNP: rs122453121
rs122453121
0.925 0.440 X 133699902 stop gained G/A snv
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.700 0
dbSNP: rs1569426054
rs1569426054
1.000 0.320 X 133753540 stop gained G/T snv
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.700 0
dbSNP: rs267606850
rs267606850
1.000 0.320 X 133536201 missense variant C/T snv
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.700 0
dbSNP: rs753210097
rs753210097
1.000 0.320 X 133596519 stop gained G/A;T snv 9.8E-05 4.8E-05
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.700 0
dbSNP: rs869025181
rs869025181
1.000 0.320 X 133953181 frameshift variant CCCTTAGGGAGAC/- del
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.700 0
dbSNP: rs869025182
rs869025182
1.000 0.320 X 133692368 splice donor variant C/A snv
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.700 0
dbSNP: rs869025183
rs869025183
1.000 0.320 X 133953049 splice donor variant C/T snv
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.700 0
dbSNP: rs886039908
rs886039908
0.925 0.360 X 133536175 frameshift variant A/- delins
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.700 0