DSG1, desmoglein 1, 1828

N. diseases: 81; N. variants: 13
Disease: Keratosis palmoplantaris striata 1 ×
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: rs1182196436
rs1182196436 		0.925 0.120 18 31326922 stop gained C/A;T snv
CUI: C2931122
Disease: Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1568039793
rs1568039793 		1.000 0.080 18 31326873 splice acceptor variant G/A snv
CUI: C2931122
Disease: Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397515639
rs397515639 		1.000 0.080 18 31326608 stop gained C/T snv
CUI: C2931122
Disease: Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397515640
rs397515640 		1.000 0.080 18 31331784 stop gained C/A;T snv
CUI: C2931122
Disease: Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397515641
rs397515641 		1.000 0.080 18 31329949 stop gained A/T snv
CUI: C2931122
Disease: Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398122949
rs398122949 		1.000 0.080 18 31336426 frameshift variant -/C delins
CUI: C2931122
Disease: Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398122950
rs398122950 		1.000 0.080 18 31339965 frameshift variant A/- delins
CUI: C2931122
Disease: Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398122951
rs398122951 		1.000 0.080 18 31326909 frameshift variant -/T delins
CUI: C2931122
Disease: Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0