DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Diabetes Mellitus, Non-Insulin-Dependent ×

Gene: KCNJ11 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1554901596

rs1554901596

KCNJ11

0.925

0.080

11

17387124

frameshift variant

-/C

delins

CUI:	C0011860
Disease:	Diabetes Mellitus, Non-Insulin-Dependent

Diabetes Mellitus, Non-Insulin-Dependent

0.700

dbSNP:

rs267607196

rs267607196

KCNJ11

0.827

0.160

11

17387248

missense variant

C/T

snv

2.4E-05

2.8E-05

CUI:	C0011860
Disease:	Diabetes Mellitus, Non-Insulin-Dependent

Diabetes Mellitus, Non-Insulin-Dependent

0.700