Disease: Darier Disease, Segmental ×
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: rs121912735
rs121912735 		1.000 0.080 12 110345323 stop gained C/A;T snv 4.0E-06
CUI: C1852297
Disease: Darier Disease, Segmental
Darier Disease, Segmental 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912736
rs121912736 		0.925 0.080 12 110342435 missense variant G/A snv
CUI: C1852297
Disease: Darier Disease, Segmental
Darier Disease, Segmental 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0