Disease: Darier Disease, Acral Hemorrhagic Type ×
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: rs121912732
rs121912732 		0.925 0.080 12 110342430 missense variant A/G snv
CUI: C1852296
Disease: Darier Disease, Acral Hemorrhagic Type
Darier Disease, Acral Hemorrhagic Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912733
rs121912733 		0.925 0.080 12 110327725 missense variant G/T snv
CUI: C1852296
Disease: Darier Disease, Acral Hemorrhagic Type
Darier Disease, Acral Hemorrhagic Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0