Disease: Fibromatosis, Gingival, Type 1 ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852812
rs137852812 		0.851 0.200 2 39051211 missense variant G/T snv
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs387906518
rs387906518 		1.000 0.080 2 38995220 frameshift variant -/G delins
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs397517149
rs397517149 		0.851 0.200 2 39022786 missense variant T/G snv
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs397517159
rs397517159 		0.882 0.200 2 39007168 missense variant C/T snv
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0