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: rs1559662068
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs542652468
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1567368243
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 1.000 1 2019 2019
dbSNP: rs1131692229
rs1131692229
KIDINS220
0.851 0.120 2 8730956 frameshift variant GT/- delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1131692034
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs397516827
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs199473457
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs397517148
rs397517148
SOS1
0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 1.000 1 2016 2016
dbSNP: rs1164484724
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs121913375
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs794727774
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs180177035
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 1.000 2 2006 2006
dbSNP: rs1057518879
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1135402759
rs1135402759
ZEB2
1.000 0.280 2 144389932 missense variant T/C snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs376754460
rs376754460
PMM2
0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-06
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs190521996
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs28936415
rs28936415
PMM2
0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs312262690
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs779027563
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 1.000 1 2017 2017
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0