COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Pterygium of nail ×
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: rs765243124
rs765243124 		0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C0406438
Disease: Pterygium of nail
Pterygium of nail 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0