Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1204919376
rs1204919376
SRGN
0.010 GeneticVariation BEFREE Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene. 26845730

2016
dbSNP: rs139767835
rs139767835
AR
0.010 GeneticVariation BEFREE Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene. 26845730

2016
dbSNP: rs1800053
rs1800053
AR
0.010 GeneticVariation BEFREE Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene. 26845730

2016
dbSNP: rs397507444
rs397507444
MTHFR
0.010 GeneticVariation BEFREE Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelter's syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C. 20449891

2010
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.010 GeneticVariation BEFREE In this study, we present the first report of JAK2 V617F-positive ET in a patient with KS, as well as a review of the relevant literature. 20362232

2010