DSP, desmoplakin, 1832

N. diseases: 191; N. variants: 152
Disease: Skin Fragility-Woolly Hair Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912993
rs121912993
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121912993
rs121912993
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome 		0.800 GeneticVariation UNIPROT
dbSNP: rs28931610
rs28931610
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome 		0.700 GeneticVariation UNIPROT Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. 11841538 2002
dbSNP: rs121912994
rs121912994
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912995
rs121912995
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906618
rs387906618
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397516955
rs397516955
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794728137
rs794728137
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C1843292
Disease:
Skin Fragility-Woolly Hair Syndrome 		AG 0.700 GeneticVariation CLINVAR