Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201249971
rs201249971
LIPH
T 0.700 CausalMutation CLINVAR Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis. 25899282

2015
dbSNP: rs201249971
rs201249971
LIPH
T 0.700 CausalMutation CLINVAR Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family. 25201209

2014
dbSNP: rs201249971
rs201249971
LIPH
T 0.700 CausalMutation CLINVAR Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair. 25271093

2014
dbSNP: rs201249971
rs201249971
LIPH
T 0.700 CausalMutation CLINVAR Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood. 22449147

2013
dbSNP: rs201249971
rs201249971
LIPH
T 0.700 CausalMutation CLINVAR Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair. 21352330

2011
dbSNP: rs201249971
rs201249971
LIPH
T 0.700 CausalMutation CLINVAR Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. 20213768

2010
dbSNP: rs201249971
rs201249971
LIPH
T 0.700 CausalMutation CLINVAR Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. 19892526

2009