Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906788
rs387906788
MAP3K1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 GeneticVariation CLINVAR Exome sequencing for the diagnosis of 46,XY disorders of sex development. 25383892

2015
dbSNP: rs387906788
rs387906788
MAP3K1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 GeneticVariation CLINVAR Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling. 24135036

2014
dbSNP: rs387906788
rs387906788
MAP3K1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 GeneticVariation CLINVAR Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects. 22171599

2012
dbSNP: rs387906788
rs387906788
MAP3K1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 GeneticVariation CLINVAR Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. 21129722

2010
dbSNP: rs387906788
rs387906788
MAP3K1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		A 0.700 GeneticVariation CLINVAR Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis. 12786760

2003