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: rs1057516039
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1057517992
rs1057517992
KMT2D
0.925 0.240 12 49031861 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1057518149
rs1057518149
KMT2D
1.000 0.120 12 49039221 splice donor variant C/A;T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1057518571
rs1057518571
KMT2D
1.000 0.120 12 49040359 stop gained G/A snv 7.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1057518680
rs1057518680
KMT2D
1.000 0.120 12 49051294 missense variant G/C snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1057519067
rs1057519067
KMT2D
1.000 0.120 12 49033227 frameshift variant CTGT/- delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1057519422
rs1057519422
KMT2D
1.000 0.120 12 49054351 stop gained C/A;T snv 4.6E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1057519595
rs1057519595
KMT2D
1.000 0.120 12 49050594 frameshift variant A/- del 7.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs1060499552
rs1060499552
KMT2D
1.000 0.120 12 49033895 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1060499669
rs1060499669
KMT2D
1.000 0.120 12 49032044 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1060499724
rs1060499724
KMT2D
1.000 0.120 12 49042576 frameshift variant G/- delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1064796125
rs1064796125
KMT2D
1.000 0.120 12 49052679 frameshift variant G/- delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs111266743
rs111266743
KMT2D
1.000 0.120 12 49044235 missense variant G/A;C snv 4.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1210590639
rs1210590639
KMT2D
1.000 0.120 12 49037266 stop gained G/A;T snv 4.0E-06 7.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1240601136
rs1240601136
KMT2D
1.000 0.120 12 49046648 frameshift variant G/-;GGGG delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1290729871
rs1290729871
KMT2D
1.000 0.120 12 49044945 stop gained C/A;T snv 4.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1341612248
rs1341612248
KMT2D
1.000 0.120 12 49049815 missense variant C/T snv 4.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1342235871
rs1342235871
KMT2D
1.000 0.120 12 49033015 missense variant A/G snv 5.2E-05 7.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1350605713
rs1350605713
KMT2D
1.000 0.120 12 49032893 stop gained G/A;C snv 6.5E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1355372507
rs1355372507
KMT2D
1.000 0.120 12 49029479 splice region variant G/A;C snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1364500207
rs1364500207
KMT2D
1.000 0.120 12 49049884 frameshift variant C/- delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1388523736
rs1388523736
KMT2D
1.000 0.120 12 49022122 missense variant C/T snv 4.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 9 2010 2014
dbSNP: rs1422752351
rs1422752351
KMT2D
1.000 0.120 12 49022350 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 2 2011 2016
dbSNP: rs1452715535
rs1452715535
KMT2D
1.000 0.120 12 49041475 stop gained G/A;C snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0