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: rs1057518842
rs1057518842
NF1
5 1.000 0.080 17 31227215 splice region variant T/G snv 0.700 0
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1057519370
rs1057519370
NF1
7 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
dbSNP: rs1555534929
rs1555534929
NF1
4 1.000 0.080 17 31337882 splice donor variant T/- del 0.700 0
dbSNP: rs1555535032
rs1555535032
NF1
9 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0
dbSNP: rs863224493
rs863224493
NF1
7 0.925 0.120 17 31352281 stop gained G/A snv 0.700 0
dbSNP: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0