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: rs1057518922
rs1057518922
4 0.925 0.200 1 68431281 splice donor variant C/A;T snv 1.6E-05 0.700 0
dbSNP: rs1555618516
rs1555618516
NF1
3 0.925 0.080 17 31258405 missense variant G/C snv 0.700 0
dbSNP: rs1555740394
rs1555740394
5 0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 0.700 0
dbSNP: rs1555740650
rs1555740650
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs1555741826
rs1555741826
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs1560162116
rs1560162116
5 0.882 0.080 3 184242930 missense variant T/C snv 0.700 0
dbSNP: rs1560164682
rs1560164682
5 0.882 0.080 3 184245709 splice region variant T/C snv 0.700 0
dbSNP: rs777103184
rs777103184
6 0.827 0.040 2 29073071 stop gained C/T snv 8.0E-06 0.700 0