DisGeNET - a database of gene-disease associations

Klinefelter's syndrome - male with more than two X chromosomes, C0432474

Variant: rs77375493 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

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.

2010