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: rs1425998598
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2017 2017
dbSNP: rs1555649483
rs1555649483
BPTF
0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2017 2017
dbSNP: rs1555652383
rs1555652383
BPTF
0.807 0.160 17 67912720 frameshift variant TG/- delins
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2017 2017
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2016 2016
dbSNP: rs782736894
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2017 2017
dbSNP: rs1057519324
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs1057519334
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs1064795559
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs121918487
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs1554317931
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0