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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.050 0.800 5 1998 2016
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.050 1.000 5 2005 2017
dbSNP: rs1546124
rs1546124
CRISPLD2
0.807 0.200 16 84838445 5 prime UTR variant G/A;C snv 8.6E-06; 0.67
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.020 1.000 2 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.020 1.000 2 2003 2009
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.020 1.000 2 2010 2013
dbSNP: rs10127484
rs10127484
LOC101928059
1.000 1 153928504 intron variant A/G;T snv
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2010 2010
dbSNP: rs1036980234
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2010 2010
dbSNP: rs10415622
rs10415622
SLC39A3
1.000 19 2739698 intron variant A/G snv 0.45
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2010 2010
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2009 2009
dbSNP: rs11264736
rs11264736
SLC39A1 ; CREB3L4
1.000 1 153966654 non coding transcript exon variant C/G;T snv
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2010 2010
dbSNP: rs1139
rs1139
ZNF385B
0.851 0.200 2 179745354 intron variant C/T snv 0.22
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2011 2011
dbSNP: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2018 2018
dbSNP: rs1258763
rs1258763 		0.925 0.080 15 32758222 intergenic variant C/T snv 0.60
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2018 2018
dbSNP: rs164393
rs164393
SLC30A5
1.000 5 69113267 non coding transcript exon variant A/C;T snv 0.67; 6.1E-04
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2010 2010
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2008 2008
dbSNP: rs17563
rs17563
BMP4
0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2005 2005
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2015 2015
dbSNP: rs197204
rs197204
MCUB
0.851 0.200 4 109576918 intron variant C/G snv 0.52
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2016 2016
dbSNP: rs1972041
rs1972041
TPM1
1.000 15 63068648 intron variant T/C snv 0.59
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2019 2019
dbSNP: rs201002930
rs201002930
WNT10A
0.827 0.200 2 218889997 synonymous variant C/T snv 3.2E-05 7.0E-06
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2018 2018
dbSNP: rs2066836
rs2066836
PTCH1
1.000 9 95476076 synonymous variant G/A snv 0.17 0.15
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2010 2010
dbSNP: rs2166975
rs2166975
TGFA
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2007 2007
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2008 2008
dbSNP: rs2274976
rs2274976
MTHFR
0.807 0.320 1 11790870 missense variant C/T snv 5.6E-02 4.2E-02
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2014 2014