Disease: Meleda Disease ×
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: rs28937888
rs28937888 		1.000 0.080 8 142741199 missense variant C/G;T snv 4.5E-05
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.820 1.000 2 2007 2011
dbSNP: rs121908318
rs121908318 		1.000 0.080 8 142742343 missense variant A/G snv 8.0E-05 6.3E-05
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 11 2001 2015
dbSNP: rs121908320
rs121908320 		1.000 0.080 8 142741159 missense variant C/A;T snv
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 10 2001 2015
dbSNP: rs121908319
rs121908319 		1.000 0.080 8 142741226 missense variant A/G snv 4.1E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 9 2001 2015
dbSNP: rs1448017161
rs1448017161 		1.000 0.080 8 142741243 missense variant C/T snv 8.4E-06 7.0E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 9 2001 2015
dbSNP: rs772388665
rs772388665 		1.000 0.080 8 142741175 missense variant A/T snv 8.1E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 9 2001 2015
dbSNP: rs587776601
rs587776601 		1.000 0.080 8 142741899 frameshift variant A/- del 3.2E-05 6.3E-05
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2018
dbSNP: rs1181208026
rs1181208026 		1.000 0.080 8 142741211 missense variant G/A;T snv 4.1E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121908317
rs121908317 		1.000 0.080 8 142741169 stop gained G/A;C snv 1.2E-05; 4.1E-06
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs28937889
rs28937889 		1.000 0.080 8 142742385 start lost T/G snv
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587776602
rs587776602 		1.000 0.080 8 142741802 splice donor variant C/T snv
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0