DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Skin Fragility-Woolly Hair 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: rs121912993
rs121912993 		1.000 0.080 6 7565442 missense variant T/G snv
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs28931610
rs28931610 		1.000 0.080 6 7584358 missense variant C/T snv
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2002 2002
dbSNP: rs121912994
rs121912994 		1.000 0.080 6 7574786 stop gained T/A snv
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912995
rs121912995 		1.000 0.080 6 7571928 stop gained C/T snv
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906618
rs387906618 		1.000 0.080 6 7584359 missense variant G/A snv 4.0E-06
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397516955
rs397516955 		0.790 0.120 6 7562753 stop gained G/A snv
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794728137
rs794728137 		0.807 0.120 6 7565507 frameshift variant -/G delins
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
Skin Fragility-Woolly Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0