Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864309486
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 1.000 1 2015 2015
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs137854889
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs61753219
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs863223330
rs863223330
SIX1 ; MIR9718
0.807 0.280 14 60648629 splice donor variant C/G snv
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.700 0
dbSNP: rs3135718
rs3135718
FGFR2
0.882 0.160 10 121594355 intron variant C/T snv 0.54
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.010 < 0.001 1 2019 2019
dbSNP: rs756096100
rs756096100
EVC2
1.000 0.080 4 5568481 missense variant C/A;G;T snv 4.9E-06; 4.9E-06
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.010 1.000 1 2015 2015