Source: BEFREE

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: rs77543610
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.900 1.000 24 1995 2018
dbSNP: rs121918498
rs121918498
FGFR2
1.000 0.080 10 121520162 missense variant CG/AA mnv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 1.000 1 1995 2004
dbSNP: rs79184941
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 0.960 22 1995 2018
dbSNP: rs121918487
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.710 1.000 1 2014 2014
dbSNP: rs121918502
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.710 1.000 1 1996 2014
dbSNP: rs121909627
rs121909627
FGFR1
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.030 1.000 3 1999 2014
dbSNP: rs121918488
rs121918488
FGFR2
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs121918497
rs121918497
FGFR2
0.776 0.160 10 121520052 missense variant T/G snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs121918501
rs121918501
FGFR2
0.807 0.080 10 121520050 missense variant A/C;G snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs1318358361
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs374608214
rs374608214
FGFR2
0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs4647924
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs745732650
rs745732650
MMP2
1.000 0.080 16 55485700 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs766812325
rs766812325
RUNX2
0.882 0.080 6 45492058 missense variant C/G snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2004 2004
dbSNP: rs776587763
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.010 1.000 1 2014 2014