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: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 1.000 1 2017 2017
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs1057518939
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs1172486173
rs1172486173
QARS1 ; MIR6890
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs1202430946
rs1202430946
IGHMBP2
0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs137854889
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs1553154130
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs1554699491
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs185476065
rs185476065
QARS1 ; MIR6890
0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs386834061
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs387907145
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs387907260
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		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: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs786205124
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs886041125
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0