Disease: Basan syndrome ×
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: rs1057519613
rs1057519613 		1.000 0.120 4 94253672 splice donor variant G/A;T snv
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs895436485
rs895436485 		1.000 0.120 4 94253674 splice region variant A/G;T snv
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0