Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2229013
rs2229013
ANOS1
0.010 GeneticVariation BEFREE A missense mutation of KAL1, c.1828G>A, led to pVal610Ile substitution in two brothers with KS; their mother is heterozygous for this missense mutation encoded by single-nucleotide polymorphism rs2229013. 23410897

2013