Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555815121
rs1555815121
PRKAR1A ; FAM20A
T 0.700 GeneticVariation CLINVAR Novel mutations of the PRKAR1A gene in patients with acrodysostosis. 23425300

2013
dbSNP: rs1555815121
rs1555815121
PRKAR1A ; FAM20A
T 0.700 GeneticVariation CLINVAR Exome sequencing identifies PDE4D mutations in acrodysostosis. 22464252

2012
dbSNP: rs1555815121
rs1555815121
PRKAR1A ; FAM20A
T 0.700 GeneticVariation CLINVAR PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. 23043190

2012