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: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1555535032
rs1555535032
NF1
9 0.882 0.120 17 31338734 frameshift variant TTAC/- delins 0.700 0
dbSNP: rs1555535403
rs1555535403
NF1
3 1.000 0.120 17 31343021 inframe deletion TATTTATGGCAATCCGGAATCCTCTGG/- delins 0.700 0
dbSNP: rs786202457
rs786202457
NF1
5 0.882 0.120 17 31350209 stop gained C/T snv 0.700 0
dbSNP: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0