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: rs866445127
rs866445127
NF1
7 0.851 0.240 17 31352348 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs730882247
rs730882247
TMEM92
3 0.882 0.040 17 50277743 splice region variant A/G snv 0.700 0
dbSNP: rs730882250
rs730882250
DPH1
5 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs886039811
rs886039811
B9D1
6 0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs778740017
rs778740017
COX6B1
3 0.925 0.120 19 35651301 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1057519946
rs1057519946
PPP2R1A
18 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
dbSNP: rs730882200
rs730882200
ARFGEF2
3 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
dbSNP: rs398122368
rs398122368
SMARCB1
3 0.925 0.040 22 23791772 missense variant G/A;C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs431905509
rs431905509
SLC25A1
8 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs137852520
rs137852520
L1CAM
4 0.851 0.200 X 153868866 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1131692230
rs1131692230
PDHA1
9 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
dbSNP: rs1569234334
rs1569234334
KIF4A
5 0.851 0.200 X 70329420 missense variant G/T snv 0.700 0