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 GeneticVariation CLINVAR A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia. 24722066

2015
dbSNP: rs201249971
rs201249971
LIPH
T 0.700 GeneticVariation CLINVAR Two cases of autosomal recessive woolly hair with LIPH gene mutations. 23590372

2013
dbSNP: rs201249971
rs201249971
LIPH
T 0.700 GeneticVariation CLINVAR Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. 19892526

2009