Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554698878
rs1554698878
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Localization and phosphorylation of Abl-interactor proteins, Abi-1 and Abi-2, in the developing nervous system. 10995551

2000
dbSNP: rs1554698878
rs1554698878
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR The levels of the bancal product, a Drosophila homologue of vertebrate hnRNP K protein, affect cell proliferation and apoptosis in imaginal disc cells. 10523673

1999
dbSNP: rs1554698878
rs1554698878
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR The product of the murine homolog of the Drosophila extra sex combs gene displays transcriptional repressor activity. 9234727

1997
dbSNP: rs1554698878
rs1554698878
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR The K nuclear shuttling domain: a novel signal for nuclear import and nuclear export in the hnRNP K protein. 9218800

1997
dbSNP: rs1554698878
rs1554698878
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A. 8833161

1996