rs587776925, SNRPE

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPOTRICHOSIS 11
CUI: C3554409
Disease: HYPOTRICHOSIS 11
0.800 GeneticVariation UNIPROT Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. 23246290 2013
HYPOTRICHOSIS 11
CUI: C3554409
Disease: HYPOTRICHOSIS 11
0.800 CausalMutation CLINVAR
Hypotrichosis simplex
CUI: C1854310
Disease: Hypotrichosis simplex
0.010 GeneticVariation BEFREE We identified the same mutation in a simplex HS case from the UK and an additional mutation (c.133G>A [p.Gly45Ser]) in a simplex HS case originating from Tunisia. 23246290 2013