Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777527
rs587777527
Entrez Id: 6144;26771;619499
Gene Symbol: RPL21;SNORD102;SNORA27
RPL21;SNORD102;SNORA27
CUI: C4014563
Disease:
HYPOTRICHOSIS 12
0.800 GeneticVariation UNIPROT Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. 21412954 2011
dbSNP: rs587777527
rs587777527
Entrez Id: 6144;26771;619499
Gene Symbol: RPL21;SNORD102;SNORA27
RPL21;SNORD102;SNORA27
CUI: C4014563
Disease:
HYPOTRICHOSIS 12
A 0.800 CausalMutation CLINVAR