DisGeNET - a database of gene-disease associations

Rhabdomyolysis, C0035410

Variant: rs202143236 ×

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs202143236

rs202143236

PFKM ; MIR6505

2

1.000

0.160

12

48131394

splice donor variant

G/A

snv

1.3E-04; 4.0E-06

6.3E-05

0.700

1.000

2017

2017