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: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.030 1.000 3 2010 2012
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.030 1.000 3 2010 2012
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.020 1.000 2 2010 2014
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.020 1.000 2 2010 2014
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: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.020 1.000 2 2010 2014
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2019 2019
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C4021813
Disease: Oral cleft
Oral cleft 		0.010 1.000 1 2016 2016
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 1.000 1 2010 2010
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs642961
rs642961 		0.732 0.440 1 209815925 intergenic variant A/G snv 0.84
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019