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: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.020 0.500 2 2011 2013
dbSNP: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.020 0.500 2 2011 2013
dbSNP: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2014 2014
dbSNP: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 1.000 1 2018 2018
dbSNP: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 < 0.001 1 2020 2020
dbSNP: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 1.000 1 2018 2018
dbSNP: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 1.000 1 2020 2020
dbSNP: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2014 2014
dbSNP: rs12532
rs12532
MSX1
0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.010 1.000 1 2018 2018
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