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: 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: 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
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: rs1057517786
rs1057517786
PDCD10
0.925 0.400 3 167704889 stop gained G/A 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: rs137854438
rs137854438
FAM83H
1.000 0.080 8 143728570 stop gained A/T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2019 2019
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: 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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.100 1.000 14 1999 2019
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: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 1.000 3 2017 2018
dbSNP: rs121912678
rs121912678
ACVR1
0.851 0.080 2 157774114 missense variant C/G;T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 1.000 2 2009 2020
dbSNP: rs121918214
rs121918214
FTO
1.000 0.200 16 53873837 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 1.000 2 2016 2016
dbSNP: rs28933068
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 1.000 2 2007 2017
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
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: rs104894232
rs104894232
PUS3 ; HYLS1
0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2016 2016
dbSNP: rs104894378
rs104894378
TBX5
0.882 0.120 12 114385521 missense variant C/G;T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 1999 1999
dbSNP: rs104894381
rs104894381
TBX5
0.925 0.120 12 114401830 missense variant C/T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 1999 1999
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: rs1052108705
rs1052108705
POU5F1 ; TCF19
6 31165217 missense variant C/T snv 4.1E-06 2.1E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2019 2019
dbSNP: rs1057519320
rs1057519320
FBN1
0.807 0.160 15 48444574 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs1057519321
rs1057519321
FBN2
0.807 0.160 5 128349391 missense variant C/A;T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
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: rs121909173
rs121909173
HESX1
0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 < 0.001 1 2008 2008