Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776925
rs587776925
Entrez Id: 6635
Gene Symbol: SNRPE
SNRPE
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
dbSNP: rs587776925
rs587776925
Entrez Id: 6635
Gene Symbol: SNRPE
SNRPE
CUI: C3554409
Disease:
HYPOTRICHOSIS 11 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587776924
rs587776924
Entrez Id: 6635
Gene Symbol: SNRPE
SNRPE
CUI: C3554409
Disease:
HYPOTRICHOSIS 11 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587776925
rs587776925
Entrez Id: 6635
Gene Symbol: SNRPE
SNRPE
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