DisGeNET - a database of gene-disease associations

rs78894077, SH2B3

N. diseases: 1

Disease: Thrombocythemia, Essential ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Thrombocythemia, Essential

CUI:	C0040028
Disease:	Thrombocythemia, Essential

0.010

GeneticVariation

BEFREE

For rs78894077 (T/C, in exon1), the T allele (p.242S) was frequently found in ET (P<0.05).

2016