TCHH, trichohyalin, 7062

N. diseases: 23; N. variants: 2
Disease: UNCOMBABLE HAIR SYNDROME 3 ×
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: rs201930497
rs201930497 		1.000 1 152112226 stop gained G/A;C snv 3.3E-04; 4.2E-05
CUI: C4310648
Disease: UNCOMBABLE HAIR SYNDROME 3
UNCOMBABLE HAIR SYNDROME 3 		0.700 0