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: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.070 1.000 7 2004 2019
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: rs504849
rs504849
WNT5A
3 55488911 intron variant T/C;G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2015 2015
dbSNP: rs1051740
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2019 2019
dbSNP: rs1206736425
rs1206736425
FCGR3B
1 161626229 missense variant T/C snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs12720071
rs12720071
CNR1
0.807 0.200 6 88141462 3 prime UTR variant T/C snv 0.11
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2011 2011
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: 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
dbSNP: rs786201044
rs786201044
PTEN
0.827 0.200 10 87933165 missense variant T/C snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2007 2007
dbSNP: rs806368
rs806368
CNR1
0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2011 2011
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: rs524153
rs524153
WNT5A
3 55491957 upstream gene variant T/A;G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2015 2015
dbSNP: rs104893951
rs104893951
FOXC1
0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2008 2008
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: rs80338852
rs80338852
B3GLCT
0.925 0.200 13 31317599 stop gained T/A;C snv 8.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2010 2010
dbSNP: rs4954218
rs4954218
MAP3K19
0.925 0.080 2 135045855 intron variant G/T snv 0.83
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2012 2012
dbSNP: rs756632799
rs756632799
PIGT ; LOC107985405
0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2014 2014
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: 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: rs77543610
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2008 2008
dbSNP: rs121918355
rs121918355
LTBP2
0.807 0.280 14 74555629 stop gained G/A;T snv 2.1E-05; 4.2E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2011 2011
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: 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: 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: rs4988235
rs4988235
MCM6
0.752 0.400 2 135851076 intron variant G/A;C snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2019 2019