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: rs121908595
rs121908595
MAP2K1
8 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 7 2006 2009
dbSNP: rs137854544
rs137854544
CTSA
10 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
dbSNP: rs875989777
rs875989777
CTSA
9 0.851 0.320 20 45894704 frameshift variant AT/- delins 0.700 1.000 3 1996 2014
dbSNP: rs1057518887
rs1057518887
SEPSECS
7 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs137853883
rs137853883
FKBP10
5 0.882 0.120 17 41819307 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1565191262
rs1565191262
FAM111B
4 1.000 0.080 11 59125559 frameshift variant T/- del 0.700 0
dbSNP: rs1568359734
rs1568359734
ASXL3
8 0.827 0.240 18 33738903 frameshift variant A/- delins 0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
17 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
dbSNP: rs749621890
rs749621890
EXTL3
7 0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0