Source: CURATED

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: rs121913129
rs121913129
MSX1
1.000 0.080 4 4862836 missense variant G/C snv
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.800 1.000 2 1996 2002
dbSNP: rs121913130
rs121913130
MSX1
1.000 0.080 4 4860099 missense variant T/A;C snv
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.800 1.000 2 1996 2002
dbSNP: rs28928890
rs28928890
MSX1
1.000 0.120 4 4860150 missense variant A/G;T snv 9.6E-06
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		0.800 1.000 1 2003 2003
dbSNP: rs28933081
rs28933081
MSX1
1.000 0.120 4 4860264 missense variant G/A;T snv 4.1E-05
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		0.800 1.000 1 2003 2003
dbSNP: rs515726227
rs515726227
MSX1
0.925 0.080 4 4863139 frameshift variant -/TA delins
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.710 1.000 2 1996 2014
dbSNP: rs150284621
rs150284621
MSX1
1.000 0.120 4 4862702 missense variant G/A;T snv 8.2E-06; 2.3E-04
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		0.700 1.000 1 2003 2003
dbSNP: rs759548721
rs759548721
MSX1
1.000 0.120 4 4860258 missense variant T/G snv 1.8E-04 1.6E-04
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		0.700 1.000 1 2003 2003
dbSNP: rs104893850
rs104893850
MSX1
1.000 0.080 4 4862808 stop gained C/T snv
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.700 0
dbSNP: rs104893852
rs104893852
MSX1
1.000 0.080 4 4860231 stop gained C/A snv 7.0E-06
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.700 0
dbSNP: rs104893853
rs104893853
MSX1
1.000 0.120 4 4862854 stop gained C/A;G snv 1.6E-05
CUI: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		0.700 0
dbSNP: rs104893854
rs104893854
MSX1
1.000 0.120 4 4860357 missense variant C/A;G;T snv 1.5E-04; 4.5E-06; 4.5E-06
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		0.700 0
dbSNP: rs1553877821
rs1553877821
MSX1
1.000 0.080 4 4859979 frameshift variant -/A delins
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.700 0
dbSNP: rs1553878162
rs1553878162
MSX1
1.000 0.120 4 4862892 stop gained C/T snv
CUI: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		0.700 0