Disease: PEELING SKIN 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: rs387906841
rs387906841 		1.000 0.080 6 31117440 stop gained T/A snv 6.1E-06 4.2E-05
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs606231274
rs606231274 		1.000 0.080 6 31117447 frameshift variant -/CAGG delins 3.1E-05 7.0E-06
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs606231275
rs606231275 		1.000 0.080 6 31117191 stop gained C/A snv
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs672601343
rs672601343 		1.000 0.080 6 31116869 frameshift variant C/- delins
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0