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: rs1555756091
rs1555756091
1 1.000 19 13298847 frameshift variant -/A ins 0.700 1.000 46 1988 2017
dbSNP: rs1554773487
rs1554773487
1 1.000 9 128220205 missense variant G/T snv 0.700 1.000 38 1983 2017
dbSNP: rs1555534380
rs1555534380
NF1
1 1.000 17 31334860 stop gained T/A snv 0.700 1.000 34 1967 2017
dbSNP: rs1555535052
rs1555535052
NF1
1 1.000 17 31338798 frameshift variant -/TA delins 0.700 1.000 34 1967 2017
dbSNP: rs797044916
rs797044916
1 1.000 1 22078546 missense variant A/G snv 0.700 1.000 30 1993 2015
dbSNP: rs1555393647
rs1555393647
1 1.000 15 48412588 frameshift variant -/T delins 0.700 1.000 29 1986 2016
dbSNP: rs1555859157
rs1555859157
1 1.000 19 41968833 missense variant A/G snv 0.700 1.000 27 1988 2017
dbSNP: rs1553602498
rs1553602498
1 1.000 2 224497809 stop gained G/A snv 0.700 1.000 25 1986 2016
dbSNP: rs1554770044
rs1554770044
1 1.000 9 137162182 missense variant G/A snv 0.700 1.000 25 1983 2017
dbSNP: rs1555208063
rs1555208063
1 1.000 12 109800629 missense variant T/G snv 0.700 1.000 24 1976 2017
dbSNP: rs150800017
rs150800017
1 1.000 11 118489816 stop gained C/G;T snv 8.0E-06 0.700 1.000 22 1989 2017
dbSNP: rs1553630472
rs1553630472
1 1.000 3 41225721 stop gained C/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1555039343
rs1555039343
1 1.000 11 118481870 stop gained C/T snv 0.700 1.000 22 1989 2017
dbSNP: rs1555040480
rs1555040480
1 1.000 11 118484971 splice donor variant -/AG delins 0.700 1.000 22 1989 2017
dbSNP: rs1555046404
rs1555046404
1 1.000 11 118503042 stop gained C/T snv 0.700 1.000 22 1989 2017
dbSNP: rs1555053483
rs1555053483
1 1.000 11 118521302 frameshift variant -/C delins 0.700 1.000 22 1989 2017
dbSNP: rs1555138529
rs1555138529
1 1.000 11 118436642 frameshift variant C/- delins 0.700 1.000 22 1989 2017
dbSNP: rs1555797248
rs1555797248
1 1.000 18 55275735 frameshift variant C/- del 0.700 1.000 22 2007 2017
dbSNP: rs868985556
rs868985556
1 1.000 11 118478083 stop gained C/T snv 0.700 1.000 22 1989 2017
dbSNP: rs1553354396
rs1553354396
1 1.000 2 39012309 missense variant A/C snv 0.700 1.000 21 2002 2016
dbSNP: rs1554235792
rs1554235792
1 1.000 6 157201064 stop gained C/G snv 0.700 1.000 20 1984 2017
dbSNP: rs1554588675
rs1554588675
1 1.000 8 60781137 frameshift variant -/A delins 0.700 1.000 20 1999 2016
dbSNP: rs1554602564
rs1554602564
1 1.000 8 60845311 frameshift variant -/C delins 0.700 1.000 20 1999 2016
dbSNP: rs1555384301
rs1555384301
1 1.000 14 99257660 stop gained G/A snv 0.700 1.000 19 2003 2016
dbSNP: rs1553426462
rs1553426462
1 1.000 2 104856496 inframe deletion AGCGGCGCATCAAGC/- delins 0.700 1.000 18 1989 2017