Source: ALL

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: rs387906597
rs387906597
BMP4
0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.700 0
dbSNP: rs387906597
rs387906597
BMP4
0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
CUI: C1864689
Disease: MICROPHTHALMIA, SYNDROMIC 6 (disorder)
MICROPHTHALMIA, SYNDROMIC 6 (disorder) 		0.700 0
dbSNP: rs770493925
rs770493925
BMP4
1.000 0.120 14 53950774 missense variant C/T snv 1.8E-04 4.2E-05
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.700 0
dbSNP: rs121912765
rs121912765
BMP4
0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C1864689
Disease: MICROPHTHALMIA, SYNDROMIC 6 (disorder)
MICROPHTHALMIA, SYNDROMIC 6 (disorder) 		0.800 1.000 1 2008 2008
dbSNP: rs121912765
rs121912765
BMP4
0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.010 1.000 1 2008 2008
dbSNP: rs121912766
rs121912766
BMP4 ; MIR5580
1.000 0.120 14 53950222 missense variant G/A snv
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.800 1.000 1 2009 2009
dbSNP: rs121912767
rs121912767
BMP4
1.000 0.120 14 53951951 missense variant G/C snv 1.8E-04 1.7E-04
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.700 1.000 1 2009 2009
dbSNP: rs121912768
rs121912768
BMP4 ; MIR5580
1.000 0.120 14 53950399 missense variant C/A;T snv 8.2E-04
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		0.700 1.000 1 2009 2009
dbSNP: rs200671094
rs200671094
BMP4
0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.010 < 0.001 1 2009 2009
dbSNP: rs200671094
rs200671094
BMP4
0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		0.010 1.000 1 2009 2009
dbSNP: rs200671094
rs200671094
BMP4
0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.010 < 0.001 1 2009 2009
dbSNP: rs200671094
rs200671094
BMP4
0.851 0.080 14 53950508 missense variant G/A;T snv 1.2E-04; 4.0E-06
CUI: C0521706
Disease: Unilateral cataract
Unilateral cataract 		0.010 1.000 1 2009 2009
dbSNP: rs1352713791
rs1352713791
BMP4 ; MIR5580
1.000 0.040 14 53950282 missense variant A/G snv 7.0E-06
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		0.010 1.000 1 2011 2011
dbSNP: rs1377644626
rs1377644626
BMP4 ; MIR5580
1.000 0.080 14 53950403 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs2855530
rs2855530
BMP4
1.000 0.120 14 53955199 non coding transcript exon variant G/C snv 0.50
CUI: C1861537
Disease: OROFACIAL CLEFT 1
OROFACIAL CLEFT 1 		0.010 1.000 1 2011 2011
dbSNP: rs376960358
rs376960358
BMP4
1.000 0.080 14 53951861 missense variant T/C snv 3.4E-04 1.5E-04
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.010 1.000 1 2011 2011
dbSNP: rs387906597
rs387906597
BMP4
0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.010 1.000 1 2011 2011
dbSNP: rs387906597
rs387906597
BMP4
0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.010 1.000 1 2011 2011
dbSNP: rs17563
rs17563
BMP4
0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 1.000 2 2012 2015
dbSNP: rs2761884
rs2761884
BMP4
0.925 0.120 14 53954334 intron variant G/T snv 0.34
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension 		0.010 < 0.001 1 2012 2012
dbSNP: rs140920120
rs140920120
BMP4
0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2013 2013
dbSNP: rs767216159
rs767216159
BMP4
0.925 0.160 14 53950809 missense variant G/A;C snv 1.2E-04; 1.2E-05
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		0.010 1.000 1 2013 2013
dbSNP: rs767216159
rs767216159
BMP4
0.925 0.160 14 53950809 missense variant G/A;C snv 1.2E-04; 1.2E-05
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		0.010 1.000 1 2013 2013
dbSNP: rs17563
rs17563
BMP4
0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 1.000 1 2014 2014
dbSNP: rs762642
rs762642
BMP4
1.000 0.040 14 53956335 splice region variant A/C snv 0.35
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2014 2014