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: rs121909497
rs121909497
MMP13
0.925 0.080 11 102955390 missense variant A/G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2005 2005
dbSNP: rs121912974
rs121912974
POR
0.882 0.240 7 75983548 missense variant G/C snv 2.4E-04 2.2E-04
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2016 2016
dbSNP: rs121913483
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2013 2013
dbSNP: rs121918502
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2005 2005
dbSNP: rs1234344050
rs1234344050
COL3A1 ; LOC105373791
2 188984825 missense variant C/G snv 4.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2017 2017
dbSNP: rs1387329667
rs1387329667
NOTCH1
9 136500595 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2015 2015
dbSNP: rs142322800
rs142322800
FCGR3A
1 161548502 missense variant T/C snv 1.5E-04 5.6E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs1554442016
rs1554442016
TWIST1
0.882 0.080 7 19116972 missense variant T/A;C snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2017 2017
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2013 2013
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2008 2008
dbSNP: rs1801198
rs1801198
TCN2
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2017 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2012 2012
dbSNP: rs201405525
rs201405525
DECR1
0.925 0.240 8 90044993 missense variant G/A;C snv 4.5E-04; 4.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2016 2016
dbSNP: rs201968272
rs201968272
DDX11
0.925 0.160 12 31089147 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2013 2013
dbSNP: rs28939086
rs28939086
SLC26A4
0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs368705607
rs368705607
MIXL1
0.882 0.120 1 226225766 missense variant T/C;G snv 2.8E-05; 4.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2016 2016
dbSNP: rs387906617
rs387906617
CREB1
2 207567506 missense variant A/G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2012 2012
dbSNP: rs397514606
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2019 2019
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2013 2013
dbSNP: rs527236031
rs527236031
PIGT ; MIR6812
0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2014 2014
dbSNP: rs57865060
rs57865060
CYP1B1 ; CYP1B1-AS1
0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs587777108
rs587777108
ATL3 ; LOC107984336
0.925 0.080 11 63646550 missense variant T/C snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2019 2019