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: rs1554121875
rs1554121875
7 0.882 0.040 5 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867
12 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1555535403
rs1555535403
NF1
3 1.000 0.120 17 31343021 inframe deletion TATTTATGGCAATCCGGAATCCTCTGG/- delins 0.700 0