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: 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: 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: 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: 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: 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: 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: 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: 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: rs757956956
rs757956956
GPI
19 34377533 missense variant A/G snv 4.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs769269532
rs769269532
SOX9 ; SOX9-AS1
1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 < 0.001 1 2019 2019
dbSNP: rs869025322
rs869025322
PIGY ; PYURF
0.925 0.040 4 88521653 missense variant A/G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2015 2015
dbSNP: rs587777186
rs587777186
PIGN
0.925 18 62146023 missense variant A/G;T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2014 2014
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: 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: 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: 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: rs12329305
rs12329305
OSR1
2 19353152 synonymous variant C/A;T snv 1.6E-04; 5.5E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2014 2014
dbSNP: rs775144154
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
dbSNP: rs781028867
rs781028867
FTO
1.000 0.200 16 53873846 missense variant C/A;T snv 4.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2016 2016
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
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: 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: 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