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: 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: rs587777570
rs587777570
KIF5C
1.000 2 148947018 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2014 2014
dbSNP: rs671
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 < 0.001 1 2019 2019
dbSNP: rs745616565
rs745616565
FTO
1.000 0.200 16 53873855 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2016 2016
dbSNP: rs746147592
rs746147592
SRPX2
1.000 0.160 X 100665627 missense variant G/A;C snv 5.5E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2019 2019
dbSNP: rs756434709
rs756434709
NOTCH1
9 136514670 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2011 2011
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: rs764120087
rs764120087
EP300
22 41117439 missense variant G/A snv 8.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2012 2012
dbSNP: rs768746587
rs768746587
POU5F1 ; TCF19
6 31165136 missense variant C/T snv 8.4E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2019 2019
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: rs774753616
rs774753616
PIGT ; LOC107985405
1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
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: 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: 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: 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: rs79204362
rs79204362
CYP1B1
0.763 0.120 2 38071251 missense variant C/T snv 5.8E-03 1.7E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
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: 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: rs1359880314
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05
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: rs7650466
rs7650466
EPHA3
0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2018 2018
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: 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