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: rs768638173
rs768638173
NF1
6 0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 0.710 1.000 1 2015 2015
dbSNP: rs1057518904
rs1057518904
NF1
5 0.882 0.240 17 31221932 missense variant A/G snv 0.700 0
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1279529138
rs1279529138
NF1
3 0.882 0.160 17 31260516 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs137854550
rs137854550
NF1
10 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
dbSNP: rs1567848147
rs1567848147
NF1
1 1.000 0.120 17 31227548 frameshift variant GG/C delins 0.700 0
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.010 1.000 1 2019 2019