SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
Disease: Dentin dysplasia, type 1 ×
Source: ALL
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: rs140981580
rs140981580 		1.000 0.080 3 8630911 missense variant G/A;T snv 6.1E-05; 2.9E-04
CUI: C0399379
Disease: Dentin dysplasia, type 1
Dentin dysplasia, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2017 2017