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: rs104893634
rs104893634
HOXD10
1.000 0.080 2 176119164 missense variant T/A snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.810 1.000 2 2004 2006
dbSNP: rs1207534366
rs1207534366
LGI4
0.882 0.080 19 35134679 start lost A/C;G snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.700 0
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.700 0
dbSNP: rs753317536
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.700 0
dbSNP: rs797045412
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.030 1.000 3 2002 2012
dbSNP: rs1926447
rs1926447
CPB2 ; CPB2-AS1
0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.030 1.000 3 2014 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.030 1.000 3 2011 2017
dbSNP: rs3742264
rs3742264
CPB2 ; CPB2-AS1
0.742 0.400 13 46073959 missense variant C/T snv 0.31 0.35
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.020 1.000 2 2014 2018
dbSNP: rs751377893
rs751377893
F5
0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.020 1.000 2 2011 2012
dbSNP: rs899127658
rs899127658
F2
0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.020 1.000 2 2011 2012
dbSNP: rs1188383936
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 1.000 1 2012 2012
dbSNP: rs121918474
rs121918474
PROS1
0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 < 0.001 1 2019 2019
dbSNP: rs189468720
rs189468720
HOXC12 ; LOC105369775
0.925 0.080 12 53955457 missense variant C/G snv 3.6E-03 3.6E-03
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 1.000 1 2016 2016
dbSNP: rs201058276
rs201058276
F7
0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 < 0.001 1 2012 2012
dbSNP: rs2146881
rs2146881
CPB2 ; CPB2-AS1
1.000 0.080 13 46105463 non coding transcript exon variant T/A;C snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 1.000 1 2018 2018
dbSNP: rs368927897
rs368927897
JAK2 ; INSL6
0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 < 0.001 1 2013 2013
dbSNP: rs8176719
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 1.000 1 2018 2018