DisGeNET - a database of gene-disease associations

rs1555727493, KMT2B

N. diseases: 46

Disease: Laryngismus stridulus ×

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

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Laryngismus stridulus

CUI:	C4551676
Disease:	Laryngismus stridulus

1

0.742

0.480

19

35718020

frameshift variant

-/GGCGGGCGGCGGC

delins

0.700